bluuebunny/crossref_metadata_2025 huggingface dataset:
Chromosome survey of a hospital for the mentally subnormal Part 2: Autosome abnormalities
Authors: Newton M. S. , Cunningham C. , Jacobs P. A. , Price W. H. , Fraser I. A.
Published: July 2010

Details of a cytogenetic survey of 1,255 patients over 15 years of age in a hospital for the mentally subnormal are reported in this and a previous communication. In this hospital only 17 % of the male patients and 11 % of the female patients had I.Q levels above 50 %.

A total of 128 patients were found to have an abnormal chromosome complement. Of these, 10 had abnormalities of the sex chromosome complement, 104 had the clinical and cytogenetic features of Down's Syndrome and 14 had other abnormalities of the autosomes. Of the 104 patients with Down's Syndrome, 95 were trisomic for chromosome 21 (1 patient also had a Robertsonian translocation between two D group choromosomes), 4 had a mosaic constitution with one cell line trisomic for chromosome 21 and 5 patients had translocations of the D/G or G/G type.

The 14 patients with autosomal abnormalities not associated with Down's Syndrome included 4 with an apparently balanced translocation, 3 with deletions of chromosome material, and 7 with additional chromosome material either translocated onto another chromosome or in the form of a supernumerary chromosome.

Clinical and cytogenetic details and family studies are reported.
A ring chromosome (No. 18) in a cyclops
Authors: Cohen M. M. , Storm D. F. , Capraro V. J.
Published: July 2010

A female infant manifesting multiple congenital anomalies including cyclopian deformity is described. Chromosomal analysis revealed a ring chromosome in place of one of the normal No. 18 homologs. Identification of this structurally abnormal chromosome was confirmed by fluorescence and “giemsa banding” techniques.
Genetic studies in a family with testicular feminization, haemophilia A and colour blindness
Authors: Holmberg Lars
Published: July 2010

The mode of inheritance of the syndrome of testicular feminization (tf) is not clear. Linkage studies to date have been inconclusive. A unique family with tf and with haemophilia A and deutan colour blindness is reported. Despite information about three X‐chromosomal and several autosomal genetic markers, no definite evidence in favour of X‐chromosomal or autosomal inheritance can be presented.
X‐linked mental retardation and/or hydrocephalus
Authors: Fried K.
Published: July 2010

A family in which a brother and 5 sons of five sisters were mentally retarded without major physical abnormality, is reported. Two hydrocephalic males also occurred in the family. The possibility is entertained that in this family (and probably in others) an X‐linked gene caused either non‐specific mental retardation or hydrocephalus associated with mental retardation. Some minor physical and neurological abnormalities were found in some of the affected males, and their intelligence varied considerably within the retarded range.
Identification of 21 r and 22r chromosomes by quinacrine fluorescence
Authors: Crandall B. F. , Weber F. , Muller H. M. , Burwell J. K.
Published: July 2010

Quinacrine fluorescence has been used to identify ring G chromosomes as a 21 r in one patient and a 22r in two patients. Our finClings confirm the association of ‘antimongolism’ with a 21r, but apart from profound mental retardation, the 22r appears to produce only minimal physical changes.
Familial occurrence of mild hyperlipoproteinaemias
Authors: Miettinen T. A. , Penttilä I. M. , Lampainen E.
Published: July 2010

Familial occurrence of mild hyperlipidaemias was investigated in 183 first degree relatives of 49 index patients with hypercholesterolaemia (type II A; 16 families), mixed hyperlipidaemia (MH; 23 families) and hyperglyceridaemia (type IV; 10 families). The prevalence of different hyperlipidaemias was lowest in the family members of the type II A subjects (about one third were affected) and highest in those of the type IV cases (about a half were affected). A half of the siblings had hyperlipidaemia, type IV being the predominant abnormality in the siblings of types II A and IV index patients, and MH in the siblings of the MH index patients. Of the children of the propositi about one fifth were hyperlipidaemic; the occurrence of type II A and especially of MH was low (less than 10 %) while that of the type IV abnormality was quite high (range from 10 to 27 % in different families) even in subjects under 20 years of age, particularly among children of the type IV index patients. Symptoms of arteriosclerotic manifestations appeared more frequently in hyper‐ than normolipidaemic family members. The subjects with the type II A and MH abnormality were shorter than their hyperglyceridaemic or normolipidaemic relatives.
Length of the Y chromosome in criminal males
Authors: Nielsen Johannes , Friedrich URSULA
Published: July 2010

The length of the Y chromosome has been measured in 140 newborn boys (constituting a 10 % random sample of 1,400) and in 407 criminal males.

The distribution was normal in both groups, but the mean length of the Y chromosome was significantly higher in the criminal males, compared with the controls (P < 0.001).

Our finClings indicate that there is a correlation between the size of the Y chromosome and the risk of criminality, with an increased risk of criminality among males with a comparatively large Y chromosome.

Previous studies have shown that the variation in the length of the Y chromosome is due to variation in the fluorescent part of the long arms; our finClings indicate that this variation in length of the fluorescent part of the Y chromosome is due to variation in DNA content and not only to difference in spiralization.
Possibility of culturing foetal cells at early stages of pregnancy
Authors: Hahnemann Niels
Published: July 2010

The results of cell culture from amniotic fluid, obtained by amniocentesis, for the purpose of prenatal genetic diagnosis, are evaluated in relation to gestational age and quantity of cells available.

It is concluded that amniotic fluid from the first trimester of pregnancy is not suitable for cell culture purposes because of a scanty fluid volume and a low cellular content.
Corneal clouding in the genetic mucopolysaccharidoses: A cell culture study
Authors: Danes B. Shannon
Published: July 2010

On the basis of the mucopolysaccharide content of cultured corneal and conjunctival fibroblasts and epithelia, corneal clouding reflected an increase in total cellular mucopolysaccharides. The genetic mucopolysaccharidoses could be divided into two groups on the basis of mucopolysaccharide content of both cultured skin and ocular fibroblasts: (1) If corneal clouding was a significant early clinical finding (Hurler and Scheie syndromes), the total mucopolysaccharide content of the cultured fibroblasts was markedly increased. (2) If there was a gradual appearance of corneal clouding later in life (Sanfilippo, Morquio and Maroteaux‐Lamy syndromes), the mucopolysaccharide content of the cultured fibroblasts was only slightly above normal values. The one exception was in the Hunter syndrome, in which corneal clouding did not occur; the mucopolysaccharide content of the cultured ocular fibroblasts was only slightly elevated, whereas that of the skin fibroblasts was markedly increased.
Blue sclerae and keratoconus: Key features of a distinct heritable disorder of connective tissue
Authors: Greenfield G. , Romano A. , Stein R. , Goodman R. M.
Published: July 2010

A syndrome of keratoconus, blue sclerae, middle ear bony conduction defect and spondylolisthesis occurring in a brother and sister born to consanguineous parents is described. Eleven similar cases reported in the literature are reviewed. The narrow range of phenotypic expression and the clcar pattern of heredity suggest that this is a distinct autosomal recessive disorder of connectivc tissue. It is postulated that the basic defect in this syndrome involves an alteration in the biosyntheis of collagen.
Cytogenetic studies on cultured fibroblast‐like cells derived from basal cell carcinoma tissue
Authors: Happle R. , Hoehn H.
Published: July 2010

Chromosomal investigations were performed on fibroblast cultures established from tumour tissue of six patients with multiple basal cell carcinoma, and from one patient with a solitary basal cell carcinoma. In four instances, fibroblast cultures from specimens of unaffected skin areas Were examined simultaneously. Metaphases of peripheral blood lymphocytes were analysed in all patients. Three individuals showed increased rates of chromosomal breakage and rearrangement; the possibility of a relationship between these findings and the Occurrence of multiple basal cell carcinoma is discussed:

The chromosomal aberrations noted in one patient with multiple arsenic‐induced basal cell carcinoma probably reflect the long‐term effect of exposure to arsenic.

In the second case, the aberrations found in cultures from unaffected skin and blood lymphocytes may be due to repeated X‐ray therapy of multiple nevoid basal cell carcinoma

In the third patient, likewise affected by multiple nevoid basal cell carcinoma, the etiology of the increased frequency of chromosomally altered cells remains obscure. Taken together with two other observations (Happle et al. 1971, Happle & Kupferschmid 1972), the aberrations could indicate that in some patients with nevoid basal cell carcinoma syndrome the incidence of spontaneous chromosomal breakage tends to increase.
Ring chromosome 13 and haptoglobin heterozygosity
Authors: Fitzgerald P. H.
Published: July 2010

Two patients with congenital ring 13 chromosome abnormality as identified by tritiated thymidine autoradiography and Giemsa banding were heterozygous for the haptoglobin locus. The ring chromosome of one patient was appreciably smaller than those from which Hp deletion was claimed. Evidence for and against the presence of the haptoglobin locus on chromosome 13 and evidence favouring chromosome 16 as the site of this locus are reviewed.
An atypical case of Cockayne's syndrome
Authors: Pfeiffer R. A. , Bachmann K. D.
Published: July 2010

Extreme postnatal growth disturbance, loss of vision and hearing, atrophy of the skin and general cachexia are features of a syndrome observed in the only child of related normal parents The resemblance with Cockayne's syndrome is discusced.
Prenatal prediction in myotonic dystrophy: Guidelines for genetic counseling
Authors: Schrott Helmut G. , Karp Laurence , Omenn Gilbert s.
Published: July 2010

Prenatal prediction of myotonic dystrophy (Dm) is feasible because Dm is closely linked to the secretor (Se) locus and the Se status of the. fetus can be determined by examination of the amniotic fluid. A pregiiant woman with Dm and her husband presented a favorable mating for prenatal diagnosis. A Se‐negative fetus would have been at high risk for Dm (92%, allowing for recombination). The fetus was found to he Se‐positive and pregnancy was not terminated. Overall, 37.5% of matings are potentially favorable for prenatal prediction by linkage. The affected parent must be heterozygous at the secretor locus; the spouse must he either se/se or potentially Se/se. Otherwise, prenatal diagnosis is impossible. Guidelines have been prepared for intrauterine prediction of myotonic dystrophy in matings of various Se genotypes.
A problem in diagnosis of primary versus secondary microcephaly
Authors: Qazi Qutub H. , Reed T. Edward
Published: July 2010

Twenty‐six primary and 21 secondary microcephalics were compared on the criteria of family and birth factors and clinical examinations. The two groups were similar in respect to their birthweights and parental ages at the time of birth. The group characteristics of primary microcrphalics that appear to be useful in distinguishing them from secondary cases are: (1) consanguinity in two of 13 families, (2) significantly increased number (18.9%) of pregnancy losses, (3) almost normal conditions of gestation, delivery and postnatal periods, (4) apparent microcephaly at birth in 50%, (5) relative absence of neurological problems, (6) relatively normal developmental milestones, and (7) increased frequency of subnormal intelligence in first degree relatives.
Identification of a C6/G21 translocation chromosome by the Q‐M and Giemsa banding techniques in a patient with Down's syndrome, with possible assignment of Gm locus
Authors: Borgaonkar D. S. , Bias W. B. , Chase G. A. , Sadasivan G. , Herr H. M. , Golomb H. M. , Bahr G. F. , Kunkel L. M.
Published: July 2010

A family with a C/G, probably 6/21, translocation chromosome was ascertained through a case of Down's syndrome. Genetic linkage analysis yields a possibility of localization of the Gm locus on autosome 6.
Turner‐phenotype in males
Authors: Nielsen J. , Friedrich U. , Holm V. , Petersen G. B. , Stabell I. , Slmonsen H. , Johansen K.
Published: July 2010

Three males with Turner‐phenotype have been studied. There were no indications of inheritance of the disorder. The group was too small and too selected to give any indication of whether there are any special characteristics of personality development in males with Turner‐phenotype. One patient was mentally retarded and the other two had intelligences in the lower part of the normal range. No eytogenetic aberrations were found, but it is concluded that further cytogenetic studies, using banding technique with analysis of chromosomes in a large number of cells, are needed in order to look for possible X or Y chromosome deletions or translocations to autosomes. Such deletions or translocations might explain the similarity with Turner's syndrome in females as well as the indications of inheritance of different types found by some authors and the lack of inheritance found by others and in the present study.
Idiopathic unilateral hyperlucent lung in one monozygotic twin
Authors: Goldblum R. M. , Kogutt M. S. , Searcy R. , Nghiem Q. X. , Goldman A. S.
Published: July 2010

A case of idiopathic unilateral hyperlucent lung was demonstrated by a bronchogram, a pulmonary angiogram and pathologic findings. Extensive immunologic evaluation revealed no defect in the patient's host resistance. Although an identical twin and other family members had no pulmonary disease, a polygenic type of inheritance is suggested for this disorder because of the preponderance of affected males which is reported in the literature.
An adult male with XYYY sex chromosomes
Authors: Ridler M. A. C. , Lax R. , Mitchell M. J. , Shapiro A. , Saldaña‐Garcia P.
Published: July 2010

An adult male with a 48, XYYY karyotype is described. Clinical and cytogenetic data are presented and compared with other reported cases and with findings in double Y aneuploidy.
Platelet diphenoloxidases in Progressive Muscular Dystrophy (P.M.D.)
Authors: Démos Jean
Published: July 2010

“Diphenoloxidases” have been detected in human blood platelets. These enzymes demonstrate abnormalities in PMD and the observed abnormalities appear to be specific for the genetic lesion which is responsible for the disease.
The effect of the mouse X‐linked Testicular feminization mutation on the hypothalamus‐pituitary axis.
Authors: Itakura H. , Ohno S.
Published: July 2010

Testosterone exercises a negative feedback upon pituitary gonadotrophs, paiticularly presumptive LH producers, of both the normal male and normal female mouse. In sharp contrast, the effect of testosterone upon the corresponding cells of Tfm/Y♂ can best be described as a positive feedback. These cells of Tfm/Y♀ atrophy after castration and show remarkable hypertrophy in response to continuous administration of testosterone.
Frequency of homocystinuria amongst the blind
Authors: Zavala C. , Cobo A. , Lisker R. , Chavez Y.
Published: July 2010

Two hundred and ninety‐seven blind Mexican individuals were screened for sulfur‐containing amino acids in the urine, using cyanide‐nitroprusside and silver‐nitroprusside tests. Samples giving positive or doubtful results were further investigated by one‐way paper chromatography. Five patients with homocystinuria were found; two of them had congenital cataract, one had optic disc atrophy, one had pigmentary retinosis and the remaining one had albinism. Excluding cases due to environmental factors, the prevalence of homocystinuria among blind people in Mexico City comes close to two per cent.
Double heteroploidy, 46, XY, t(13q14q), +18, in a spontaneous abortus
Authors: Avirachan Sugandhi , Kajii Tadashi
Published: July 2010

Karyotype analysis of a spontaneous abortus revealed a double heteroploidy, 46, XY, t(DqDq), + 17‐ 18. The application of trypsin banding technique resulted in the identification of the karyotype as 46, XY, t(13q14q),+18. Peripheral lymphocyte culture from the mother of the abortus revealed an achromatic constriction in the long arm of a chromosome 16 in 6.6 percent of the analysed cells.
Increased “reproductive casualty” in heterozygotes for phenylketonuria
Authors: Saugstad L. Fegersten
Published: July 2010

“Reproductive casualty” is defined as the occurrence of abortion antepartum hemorrhage, preterm birth and pre‐ and peri‐natal death, and of offspring with three or more obstetric complications according to Prechtl (1968).

Using this definition, the “reproductive casualty” of 45 heterozygotes for phenylketonuria (PKU) is significantly raised (P <.001) compared with 328 controls.
Bilateral aniridia, multiple webs and severe mental retardation in a 47, XXY/48, XXXY mosaic
Authors: Pashayan H. , Dallaire L. , Macleod P.
Published: July 2010

Numerous congenital malformations consisting of aniridia, hypertelorism, bilateral webbing of the cubital and the popliteal regions and bilateral cryptorchidism were documented in a phenotypic male infant. Severe mental retardation, bilateral cataracts, exophthalmia and glaucoma followed by complete blindness were noted by the time the child was 9 1/2 years of age.

Leukocyte and fibroblast cultures were reported to show two cell lines, a majority of the cells showing a 47, XXY complement and a minority showing a 48, XXXY complement.
Mixed testicular dysgenesis and 46, XY/47, XXY mosaicism
Authors: Frajese G. , Santiemma V. , Savioli M. , Fraccaro M.
Published: July 2010

A 20‐year‐old 46, XY/47, XXY mosaic with azoospermia, testicular hypotrophy, low testosterone and high gonadotrophin levels had a mixed testicular dysgenesis. Histology revealed alternating tubules with germinal aplasia and tubules with spermatidic arrest.
Epiphyseal dysplasia of the femoral head, severe myopia and perceptive hearing loss in three brothers
Authors: Pfeiffer R. A. , Jünemann G. , Polster J. , Bauer H.
Published: July 2010

Three brothers, two of them monozygous twins, had epiphyseal dysplasia particularly of the femoral head, a high degree of myopia, and perceptive hearing loss. The parents were related. The disorder may be a rare autosomal recessive condition.
Dermatoglyphic studies of the 47, XYY male
Authors: Hubbell H. R. , Borgaonkar D. S. , Bolling D. R.
Published: July 2010

The dermatoglyphics of 61 47, XYY patients and 166 46, XY controls were compared. The data on 50 47, XYY and 50 46, XY individuals were used to formulate an index score for any unknown having a 47, XYY karyotype. One hundred and sixteen 46, XY individuals were tested on this index and only 65 were correctly diagnosed as 46, XY males. Two 47, XYY individuals were tested and were correctly diagnosed. This result indicates that discrimination of 47, XYY from 46, XY individuals is not possible using the dermal patterns examined here. The data of this survey confirm the variability of dermal findings in 47.XYY individuals reported by others. The data do not agree, however, with reports of significant differences between 47.XYY and 46, XY individuals in the total finger ridge count, the palmar a‐b ridge width and count, and the distal sole hypothenar area. These results indicate that the extra Y chromosome does not significantly affect the dermal patterns of 47, XYY patients.
A case of 46, XY, t(3q‐;14q+)mat
Authors: Neu R. L. , Barlow M. J. , Gardner L. I.
Published: July 2010

A newborn infant with a peculiar facies, micrognathia, bifid xiphoid, hyperextensibility of the fingers, inguinal hernia, cryptorchidism, omphalocele and a 46, XY, t(3q…14q +)mal karyotype is described. The causal relationship between the karyotypic and phenotypic findings is discussed and is not considered to he related toaneusomie de recombinaison.
Banding of human chromosomes treated with papain
Authors: Howard P. N. , Stoddard G. R. , Seely J. R.
Published: July 2010

Differential Giemsa staining techniques have been used to produce discrete banding patterns for Individual human chromosomes. Similar banding patterns have now been observed after pre‐treatment with papain.
Congenital erythropoietic porphyria:A family study
Authors: Eriksen L. , Seip M.
Published: July 2010

We present the results of a study of the porphyrin‐forming enzymes in the erythrocytes of a recently detected case of CBP, in the immediate family, and in the family of a second cousin who died in infancy with a clinical picture similar lo that seen in the present patient. Except for a moderate increase in the activity of the uroporphyrinogen synthetase in the patient's lysates no patological changes have been found either in the patient or in any of the other persons studied.

Our findings do not exclude the possibility that impaired activity of the isomerase (uroporphyrinogen‐III‐cosynthetase) plays a role, but they do indicate that this is not the only or even the most important metabolic error in the present type of erythropoictic porphyria.

A study of the kinship between the two families seems to make a simple autosomal recessive in. heritance unlikely, hut does not exclude dominant inheritance by a rare single gene with low penetrance carried by the fathers. It is possible that the present case may represent a type of porphyria variegata in which the metabolic defect in porphyrin biosynthesis is located not in the liver hut in the bone marrow.
Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy
Authors: Meretoja Jouko
Published: July 2010

A genetic analysis of familial systemic amyloidosis with lattice corneal dystrophy, facial paresis and nephropathy has been made. The 228 sibships which were at risk of the disease contained 851 sibs who were subdivided as follows: 207 affected, 134 normal, 158 not examined, 138 not diagnosed because they were too young, and 214 dead sibs.

The mode of inheritance was found to be autosomal dominant. The sex ratio corresponded to unity after adequate corrections. The corrected average proportion of affected individuals per sib‐ship was 54.4 ± 3.7% by maximum likelihood method.

In two cases there was a strong suspicion of homozygosity for the condition. These cases probably have a limited survival, whereas the heterozygous cases have a better prognosis.

Two areas were found to have a high prevalence of the disease: Kymenlaakso and South Häme districts in Finland. In the former, this was 1/1,040 among 182,000 inhabitants, whereas in 1860 in the parish Valkeala the prevalence was calculated at 1/155. Today the true prevalence probably lies between these figures.
The Wrinkly Skin Syndrome: A new heritable disorder of connective tissue
Authors: Gazit E. , Goodman R. M. , Bat‐Miriam M. , Katznelson  , Rotem Y.
Published: July 2010

A new heritable disorder of connective tissue called the Wrinkly Skin Syndrome is described, This syndrome appears to be transmitted as an autosomal recessive disorder. Clinically it is characterized by the appearance at birth of wrinkled skin about the hands and feet together with an increase in the number of creases on the ventral surfaces. Other altered connective tissue manifestations are present. A discussion is given which distinguishes the clinical and genetic features of this syndrome from those found in similar known heritable disorders of connective tissue.
Autosomal monosomy (45, XX, C—) in a humanembryo with total amelia and further malformations
Authors: Pawlowitzki I. H. , Cenani A. , Frischbier H. J.
Published: July 2010

A considerably malformed, spontaneously aborted human embryo with an autosomal monosomy is described.

Morphological findings: the 17 mm conceptus showed extreme developmental retardation, total amelia, extreme microcephalia, hypoplasia of the umbilical cord and malformations of the heart and the abdomen.

Cytogenetic findings suggested an autosomal monosomy of a C‐group chromosome.
Syndrome of facial abnormalities, kyphoscoliosis and severe mental retardation
Authors: Jammes J. , Mirhosseini S. A. , Holmes L. B.
Published: July 2010

We describe two brothers with a new mental retardation syndrome characterized by macrocephaly, hypertelarism, downward palpebral slant, protruding tongue, kyphoscoliosis and marked difficulty in walking. Their neurological deficits were non‐progressive. The surviving brother at age 23 has spastic paraparesis.
Triploidy 69, XXX in a stillborn girl
Authors: Halbrecht I. , Komlos L. , Shabtay F. , Solomon M. , Böök J. A.
Published: July 2010

Complete triploidy was found in lymphocyte cultures From a stillborn full‐term female infant with a birthweight of 1,000 g. The child had B ventricular septal detect of the heart hut no other macroscopic internal or external malformations. The mother, who had a history of prolonged anti‐asthmatic medication, displayed a high incidence of satellite associations and chromatid breakages in her cultured lymphocytes. The possibility that such changes are instrumental in the formation of triploid zygotes is discussed.
Male and female differentiation of the human gonad
Authors: Boczkowski Krzysztof
Published: July 2010

It is suggested that at least in mammals the basic differences between male and female differentiation of the primary gonad lie not only in the direction of gonadal differentiation but in the fact that different mechanisms ensure male or female differentiation. The most important step in the male differentiation is the development and the hormonal secretion of the interstitial cells (prenatal Leydig cells). Germ cells need not be present for this to occur. For ovarian differentiation the presence of the germ cells is required, and for the preservation and development of the primordial follicles, the proper function of germ cells and somatic cells of the gonad seems to be necessary. The locus or loci concerned with the ovarian differentiation of the primary gonad might lie on the euchromatic X chromosome and/or might be located on an autosome or autosomes. Present evidence does not permit the exclusion of either possibility. For further ovarian development with full oogenesis in humans, the second X chromosome is essential.
Phenotypic variation in the popliteal pterygium syndrome
Authors: Bixler D. , Poland C. , Nance W. E.
Published: July 2010

At least 47 cases of the popliteal pterygium syndrome have been reported in the literature. Of these, 27 affected individuals were multiplex cases occurring in 10 families, while 20 were isolated cases: both dominant and recessive inheritance Of the trait have been proposed. This report documents the clinical variation in gene expression observed in a pair of affected monozygous twins, the first to be described with the syndrome. The marked phenotypic variation noted in the twins suggests that it will be difficult to distinguish genetic heterogeneity from variation in gene expression in this syndrome by clinical criteria alone. In the absence of knowledge of the primary gene defect, detailed examination of all first‐degree relatives of probands is essential for genetic counseling.
Hereditary angioedema: Report of a large kindred with a rare genetic variant of C1‐esterase inhibitor
Authors: March M. De , Jacot‐Guillarmod H. , Ressa T. G. , Carbonara A. O.
Published: July 2010

The hereditary angioedema syndrome (HAE) is attributed to deficiency of an a2‐glycoprotein which inhibits the activated first component of complement (Cl). This protein is also called C1 esterase inhibitor (C? INH). The disease seems to be transmitted as an autosomal dominant trait. Two variants of the disease have been described: both have a low level of C? INH activity, but in one of them a non‐functional C? INH can be detected in the serum.

The family reported belongs to this last type. All affected members had the typical abnormalities of the complement system, namely a low level of active C? INH and a decreased amount of C4 and of total hemolytic complement. The presence of non‐functional C? INH was revealed by an immunochemical assay.

The antigenic determinants of the inactive protein we have studied do not differ from those of the normal one. However, the electrophoretic mobilmities of the two proteins were slightly different inasmuch as the pathological protein migrated more slowly. This protein may be a new variant of C̄ INH.
Antenatal diagnosis of argininosuccinic aciduria
Authors: Goodman S. I. , Mace J. W. , Turner B. , Garrett W. J.
Published: July 2010

Argininosuccinic aciduria (ASAuria) is an inherited disorder of ureogensis characterized by periodic hyperammonemia, seizures, and mental retardation. Transabdominal amniocentesis was performed at 16 weeks' gestation on a 31‐year‐old female whose one previous child had this disease. ASA concentration in the amniotic fluid was 0.073 μmoles/ml (normal = 0). Cultured amniotic cells incubated with L‐citrulline‐ureido‐11C accumulated ASA‐14C as did cultured fibroblasts of patients with ASAuria; normal cells (including those from subjects heterozygous for argininosuc‐cinasc deficiency) do not accumulate this metabolic intermediate.

Pregnancy was terminated at 22 weeks by hysterotomy. Fetal liver ASase was 3–5 percent of normal, and liver ASA concentration was 9.36 μmoles/g wet wt. (normal = 0), confirming the prediction of an affected fetus. Fetal cord serum ASA and citrulline concentrations were 0.098 and 0.071 μmoles/ml, respectively; simultaneous maternal concentrations were 0 and 0.014. Maternal urine ASA concentrations during pregnancy were 0.15.5 and 0.166 μmoles/mg crmtinine; 10 weeks after tcrmination, ASA was present in only trace amounts.

Current emphasis is on development of techniques to minimize the delay between amniocentesis and intrauterine diagnosis. It is possible that this and some other no‐threshold aminoacidurias may be diagnosed on the basis of amniotic fluid amino acids alone.
Partial trisomy 21
Authors: Aula P. , Leisti J. , von Koskull H.
Published: July 2010

Five patients showing several stigmata of Down's syndrome and a partial trisomy of chromosome 21 are reported. Three patients with only a moderate degree of mental retardation had an additional deleted chromosome 21; the characteristic dark G‐band region of the long arm of 21 was missing. In another patient with a typical Down's syndrome the G‐band region and the distal portion of the long arm of 21 were present in excess and were translocated onto the short arm of 15. Clinical features suggestive of Down's syndrome were also seen in a mildly retarded girl with a mosaic chromosome constitution (one cell line had an isochromosome for the long arm of chromosome 21 and the other had a deletion of the short arm of chromosome 21).

By correlating clinical and cytogenetic data on these patients, an attempt was made to analyse the phenotypic effects caused by the presence of excess amounts of different segments of chromosome 21.
Fluorescent bodies in amniotic fluid cells
Authors: Nelson Matilda M.
Published: July 2010

Amniotic fluid cells were examined for F bodies for antenatal diagnosis of sex. A selection of previously stained slides, cells fixed and stored, and cells freshly fixed was made for this study. The results arc compared and it is suggested that freshly fixed cells give the best results.
Metachromatic leukodystrophy:
Authors: Hagen C. R. van der , Børresen Anne‐Lise , Molne K. , Oftedal G. , Bjøro K. , Berg K.
Published: July 2010

Amniocentesis and culturing of amniotic fluid cells were performed in the sixteenth week of two subsequent pregnancies in a woman who had previously given birth to two children with metachromatic leucodystrophy. On both occasions, amniotic fluid cells deficient in arylsulphatase A were found and the diagnosis was confirmed in the aborted fetuses.
Mass screening newborns for mucopolysaccharidoses
Authors: Sabater J. , Villalba M. , Maya A.
Published: July 2010

A modification of Berry's test for the screening of mucopolysaccharides in urine, applicable with urine‐impregnated filter paper, is presented. So far, 15,000 newborns have been screened with this method. Of these, 103 gave a positive test result at 20 days of age. At three months, 78 new samples were sent and of these, five continued to give a positive test. These five cam were followed‐up for one year, and their study was completed by measuring thc activities of betagalactosidase, alfa‐fucosidase and arylsulphatasc in urine. On the basis of the results, we re commend the systematic screening of large numbers of newborns in order to establish when abnormal urinary elimination of mucopolysaccharides begins in affected babies; this fact is of unquestionable practical importance for the clarification of the many unknown points that exist with respect to the genetical, biochemical and physiological aspects of this group of diseases.
Concurrence of myotonic dystrophy and XXY Klinefelter syndrome
Authors: Sparkes R. S. , Samec L. , Kaplan S. A. , Coulson W. F.
Published: July 2010

A 43‐year‐old Caucasian man has the unusual concurrence of myotonic dystrophy and 47, XXY Klinefelter syndrome. Two other cases of a similar association are noted from the literature. The apparent increased association of the Klinefelter syndrome and myotonic dystrophy remains unexplained hut is of interest because both disorders are characterized by testicular atrophy.
Retinal aplasia in association with macular coloboma, keratoconus and cataract
Authors: Leighton D. A. , Harris R.
Published: July 2010

Two families are described in which macular autosomal recessive retinal aplasia was confirmed by electroretinography. In one family macular coloboma, not previously reported in retinal aplasia. was associated with near complete blindness. In another family there were two affected siblings and their parents were firat zuuains. In a malc sibling, retinal aplasia was associated with keratoconus and cataract, and in his affected sister the ocular fundi appeared nearly normal.
Familial infantile renal tubular acidosis and congenital nerve deaf ness: An autosomal recessive syndrome
Authors: Cohen T. , Brand‐Auraban A. , Karshai C. , Jacob A. , Gay I. , Tsitsianov J. , Shapiro T. , Jatziv S. , Ashkenazi A.
Published: July 2010

Two sibships of a large kindred are described, each with consanguinity of the parents, four children of which were affected with severe infantile renal tubular acidosis and congenital nerve deafness. Otological, audiometric and laboratory examinations of 25 additional family members were conducted. The findings indicate that this syndrome is inherited as an autosomal recessive trait. It is suggested that this syndrome is distinct from a less severe form of renal tubular acidosis and progressive mild nerve deafness which has a later age of onset.
Demonstration of hyper‐α‐lipoproteinemia in three diabetic patients
Authors: Wille L. E. , Aarseth S.
Published: July 2010

Studies of 3 patients with a novel serum lipoprotein pattern are reported. Hyper‐α‐lipoproteinemia was present in all, and in one patient this anomaly was associated with hypo‐pre‐β‐lipoproteinemia.
Two male sibs with uterus and Fallopian tubes. A rare, probably inherited disorder
Authors: Armendares S. , Buentello L. , Frenk S.
Published: July 2010

Two male sibs (46, XY) with normal penis and scrotum as well as bilateral cryptorchidism are reported. Intraabdominal uterus and Fallopian tubes were found. The pathogenesis and the possible inheritance of this developmental defect are discussed.
Aspartylglucosaminuria: Deficiency of aspartylglucosaminidase in cultured fibroblasts of patients and their heterozygous parents
Authors: Aula P. , Näntöu V. , Laipio M.‐L. , Autio S.
Published: July 2010

Aspartylglucosaminuria (AGU) is a genetic lysosomal storage disorder which probably affects the metabolism of glycoproteins. Earlier studies have shown a deficiency of a lysosomal hydrolase, N‐aspartyl‐β‐glucosaminidase in the serum and seminal fluid, as well as in the brain and liver tissues of the patients. The present studies demonstrated a very low activity of N‐aspartyl‐β‐glucosaminidase in cultured skin fibroblasts from AGU patients. The fibroblasts of the parents of the patients had a moderately low enzyme activity when conipared with control cultures. Thus, demonstration of the enzyme defect in fibroblasts offers possibilities both for detection of heterozygotes and for prenatal diagnosis of AGU.
The lobster claw defect with ectodermal defects, cleft lip‐palate, tear duct anomaly and renal anomalies
Authors: Preus M. , Fraser F. C.
Published: July 2010

A patient with the lobster claw defect, ectodermal defect, and tear duct and renal anomalies is described. An argument is presented for grouping this patient with other patients with lobster claw defect, ectodermal defects and tear duct anomalies who also have cleft lip‐palate and are classified as having the EEC syndrome
Dermatoglyphics in Down's syndrome. III
Authors: Deckers J. F. M. , Oorthuys A. M. A. , Doesburg W. H.
Published: July 2010

To confirm the clinical diagnosis of Down's syndrome by the evaluation of dermal patterns, methods of scoring were introduced by Borgaonkar and his co‐workers. In two preceding papers we demonstrated the applicability of these techniques for a correct diagnosis of Dutch Down's syndrome patients. As these methods require the rather elaborate analysis of a large number of dermal features, the present paper proposes a way of reducing the number of pattern areas to be analyzed while maintaining the approach and accuracy of the methods.
Mucolipidosis III (pseudo‐Hurler polydystrophy): Cytological and ultrastructural observations of cultured fibroblast cells
Authors: Taylor H. A. , Thomas G. H. , Miller C. S. , Kelly T. E. , Siggers D.
Published: July 2010

Cultured fibroblast cells from four patients with mucolipidosis III (pseudo‐Hurler polydystrophy) were examined by phase contrast, dark‐field and electron microscopy. Both phase and dark‐field microscopy revealed striking abnormalities in three of these patients which were indistinguishable from those seen in mucolipidosis II (I‐cell disease). While electron microscopy indicated that the structural alterations found in both mucolipidosis II and III may he due to an increased storage of material within the cytoplasm, clear differences in the ultrastructural morphology were detectable between the two disorders.
Studies in Down's syndrome
Authors: Rittner Ch. , Schwinger E.
Published: July 2010

Two series of 88 and 53 patients with Down's syndrome and 91 other mentally retarded patients were investigated for various blood, serum and enzyme groups. No association of trisomy 21 and the following systems and factors was found: ABO, Rh(D), MNSs, K, P, Fy(a, b), Jk(a, b), Gm, (1,2), InV(1), Ag (x), Lp(a), Tf, C3, acP, PGM1 and GPT. None of these markers was associated with age or the presence or absence of the Au/SH antigen in Down's syndrome or other mentally handicapped patients. Gm(+1) individuals were more frequent among Down and other mentally retarded patients than in normal controls. A decrease of Hp2 individuals with age was found in the first, but not in the second group of Down patients. A possible association of Au/SH positive and tic 1‐1 individuals was found in the first. but not confirmed in the second series of patients with Down's syndrome. The control group of other mentally retarded patients exhibited a helerogeneity according to sex and age in the distribution of Gc phenotypes.
Studies in Down's syndrome
Authors: Rittner Ch. , Rittner Beate
Published: July 2010

It is confirmed that “Xh” is a quantitative property of human serum. The hypothesis that “Xh” is primarily sex‐influenced is not supported in patients with trisomy 21. Patients with Down's syndrome generally have higher concentrations of “Xh” antigen than do other mentally retarded patients. The frequency of Xh positive reactions in patients with Down's syndrome appears to be age dependent.
Isochromosome Y [46, X, i(Yq)] and female phenotype
Authors: Böök J. A. , Eilon Batia , Halbrecht I. , Komlos Luise , Shabtay Fiorella
Published: July 2010

A 26‐year‐old patient with female phenotype and the karyotype 46, x, i (Yq) is described. She had no breast, and a rudimentary uterus and streak gonads were present. Apart from a rather deep voice, no signs of masculinization were observed, nor did she display any of the stigmata usually associated with Turner's syndrome. The Yq chromosome was identified conclusively by the Giemsa C‐banding technique. The function of the Y chromosome is discussed briefly, and it is concluded that the factors determining or regulating somatic male differentiation must be located in the short arm of the Y chromosome.
A girl with severe expression of the Holt‐Oram gene
Authors: Gardner R. J. M. , Buckfield Patricia M. , Veale A. M. O.
Published: July 2010

The case of a baby girl with severe manifestations of the Holt‐Oram syndrome is described. She had a complete a‐v canal defect, and only a stump of upper limb tissue on the left side. Defects as severe as these have not before been reported in the Holt‐Oram syndrome. Three relatives were affected to a very much lesser extent. Some comments are made on the Holt‐Oram syndrome and on the nature of the gene which causes it.
Familial laryngeal abductor paralysis and psychomotor retardation
Authors: Watters Gordon V. , Fitch Naomi
Published: July 2010

A family with congenital laryngeal stridor and psychomotor retardation is described. A similar family was studied by Plott in 1964.
A ring chromosome, diagnosed by quinacrine fluorescence as No. 9, in a mentally retarded girl
Authors: Jacobsen Petrea , Mikkelsen Margareta , Rosleff Flemming
Published: July 2010

A ring chromosome No. 9 identified by quinacrine staining was found in a 22‐year‐old mentally retarded girl with low stature, fissure of the palate, protruding lower lip and valgus deformity of the knees. The patient showed heterozygosity (type II) for cystinuria. The ring was unstable and showed different configurations.
Frequency and morphology of the Y‐body in patients with female or ambisexual phenotype
Authors: Schwinger E. , Bcczkowski K.
Published: July 2010

The Y‐body was studied in 36 patients with complete or partial androgen deficiency. In all cases a 46, XY karyotype was established. The frequency and size of the Y‐body in the patients was similar to that observed in normal men. Thus it would seem that the occurrence of the fluorescing Y‐body is not influenced by lack of, or diminished amount of androgens.
A comparative study of different electrophoretic techniques for classification of hereditary hyperlipoproteinaemias
Authors: Heiberg Arvid
Published: July 2010

The results of a comparative study of different electrophoretic techniques for phenotyping of human serum lipoproteins are reported. Electrophoresis in agarose gel was found to be preferable to electrophoresis on paper or cellulose acetate membranes.

Conditions giving reproducible results, also upon quantification of the lipoprotein zones by scanning of the electrophoretograms, were defined from methodological studies.
Congenital cornea plana in Finland
Authors: Eriksson A. W. , Lehmann W. , Forsius H.
Published: July 2010

Two different hereditary forms of congenital cornea plana are described: an autosomal dominant form with relatively mild symptoms, and an autosomal recessive form (CPCR) with more severe symptoms, such as decreased visual acuity, extreme hyperopia (total refraction usually 10 D or more), hazy limbus corneae, more or less pronounced opacities in the corneal parenchyma, and marked arcus senilis, often detectable at an early age.

As far as can be judged from the number of cases hitherto published, cornea plana is a rare disease. In Finland, 49 caw of the recessive and seven of the dominant form of cornea plana congenita have been discovered to date, which is about twice the number of cases of recessively inherited cornea plana reported elsewhere in the world. In Finnish Lapland, the gene frequency of cornea plana congenita recessiva is estimated to be 1.3 % (about 16 patients per 100,000 inhabitants), or about four times as high as in Finland as a whole. Around the lower reaches of the River Kemijoki there is a relatively high prevalence of the recessive form of the disease. The Kemijoki pedigree includes 25 patients related to each other through their ancestors.
Dermatoglyphics in Down's syndrome. I
Authors: Deckers J. F. M. , Oorthuys A. M. A. , Doesburg W. H.
Published: July 2010

A group of Down's syndrome patients and a normal control population were studied in an attempt to determine which of several existing index scores based on dermal patterns could be most efficiently used as a diagnostic aid.

The 183 mongoloid individuals were included in the study on clinical grounds and had 47 chromosomes with trisomy‐21,

Relative frequencies of dermal patterns on palms, fingers and soles were determined and the discriminative efficiency of pattern areas was investigated.
Dermatoglyphics in Down's syndrome. II.
Authors: Deckers J. F. M. , Oorthys A. M. A. , Doesburg W. H.
Published: July 2010

A number of methods developed in different countries for the use of dermatoglyphics as an objective test for the confirmation of the clinical diagnosis of Down's syndrome were evaluated for a group of 308 Dutch individuals. Optimal results were obtained by the approach proposed at John Hopkins University (U.S.A.). The Hopkins composite score correctly scored 97.7 % of the individuals tested, whereas the Hopkins single pattern scoring method correctly scored 95.5 % of individuals. A simplified use of scoring methods is proposed in a forthcoming paper.
Adenosine deaminase deficiency in a child with severe combined immunodeficiency
Authors: Knudsen B. Bygum , Dissing J.
Published: July 2010

A case is reported of an apparent total erythrocyte adenosine deaminase (ADA) deficiency in a girl suffering from severe combined immunodeficiency (c.i.d.). Four other erythrocyte enzymes investigated showed apparent normal activity. The ADA activity in erythrocytes from her parents was about half normal, suggesting that the girl had inherited a chromosome pair without information for normal red cell ADA‐isoenzymes. The suspected chromosome deficit may have affected the ADA locus only, or it may involve a more extensive part of a chromosome including the ADA locus. In another child, a boy exhibiting clinically the same immunodeficiency syndrome, the ADA type and ADA activity were found to be normal. Recently, two other cases of lack of red cell ADA activity, both affecting girls with similar manifestations of immunological deficiency, have been reported from the U.S.A. (Giblett et al. 1972). These findings indicate that coexistence of a total lack of red cell ADA activity and some immunodeficiency syndromes may be a common condition.
An atypical case of hypoxanthine‐guanine phosphoribosyltransferase deficiency (Lesch‐Nyhan syndrome)
Authors: Geerdink R. A. , de Vries W. H. M. , Willemse J. , Oei T. L. , de Bruyn C. H. M. M.
Published: July 2010

This paper describes an adult patient, with gout and without any demonstrable activity of the enzyme hypoxanthine‐guanine phosphoribosyltransferase (HG‐PRT). Few of the neurological abnormalities generally associated with severe HG‐PRT deficiency were exhibited by this patient. Psychological studies, however, disclosed that some characteristics of the behaviour anomaly in the Lesch‐Nyhan syndrome are present, but only in a concealed form.
An atypical case of hypoxanthine‐guanine phosphoribosyltransferase deficiency (Lesch‐Nyhan syndrome)
Authors: Bruyn C. H. M. M. DE , Oei T. L. , Geerdink R. A. , Lommen E. J. P.
Published: July 2010

Complete HG‐PRT deficiency was established by means of direct enzyme assay and autoradiography in a patient with relatively little, if any, of the neurological and psychomotor symptoms of the Lesch‐Nyhan syndromes. Family study revealed two other HG‐PRT negative males. Hair root analysis was used for carrier detection. Linkage study produced no evidence of close linkage between Xga and HG‐PRT loci.