bluuebunny/crossref_metadata_2025 huggingface dataset:
A screening test for patients suspected of having Turner syndrome
Authors: Preus M.
Published: July 2010

An index has been devised using dermatoglyphics and selected physical traits to screen for patients suspected of having Turner syndrome. About 60 % of females with and without Turner syndrome can be diagnosed as having or not having the syndrome with a 98 % or greater probability. The patient's score on the index, expressed in probability, can be used to decide whether chromosome studies should be done. Using the approach demonstrated in this pilot study, the discriminative power can be increased by adding more features and by enlarging the sample to permit division of features into more discriminating classes.
Origin of the extra chromosome in trisomy 16
Authors: Lauritsen Jørgen Glenn , Friedrich Ursula
Published: July 2010

Chromosome analysis was carried out on 22 spontaneous abortuses with trisomy 16 and their parents by means of sequential Q‐ and C‐banding techniques. In seven cases, the extra chromosome No. 16 originated from a non‐disjunctional error in the first meiotic division in the mother, and in two cases from an error in the first meiotic division in the father. In two cases, non‐disjunction had occurred during the second meiotic division (one in the mother and one in the father). It seems that trisomy 16, although independent of maternal age, most frequently results from a first meiotic non‐disjunction in the mother.
Autosomal reciprocal translocations and 13/14 translocations: A population study
Authors: Nielsen J. , Rasmussen K.
Published: July 2010

Fifteen children with autosomal reciprocal translocations were found in an incidence study of chromosome aberrations among 11,148 consecutively liveborn children in a Danish Maternity Hospital (1.34 per 1,000).

The segregation rate of the balanced forms was 60 % and that of unbalanced forms 4 %; the frequency of familial cases was 73 %. None of the probands or their relatives who carried the balanced translocation had any physical or mental abnormalities which could be associated with the chromosome aberration.

We found two children with unbalanced translocations among the 45 relatives examined, but more studies of unselected population groups are needed before any segregation rates for unbalanced derivatives of autosomal reciprocal translocations can be estimated.

We found a significantly higher frequency of abortions, stillbirths and perinatal deaths in the progeny of carriers with the translocation, compared with non‐carriers in the same families.

The unbalanced forms of autosomal reciprocal translocations in most cases are probably not compatible with the development of a foetus to a liveborn, healthy child.

Fifteen children with 13/14 translocation were found among 11,148 consecutively liveborn children. Incidence, segregation rates and type of translocation are discussed. Fertility and risk for carriers of D/D translocations of producing children with autosomal trisomy are discussed.
Genetic risks in Perthes' disease
Authors: Harper Peter S. , Brotherton Brian James , Cochlin Dennis
Published: July 2010

A population study of Perthes' disease in South Wales over a 25‐year period has shown a low risk of the disorder in relatives. The risk of Perthes' disease in sibs is under 1 % (2 in 323), while the risk to children of an affected parent is about 3 % (1 in 35) when adjusted for age of onset. No increased risk was found in relatives of patients with bilateral as compared with unilateral Perthes' disease. A mating between two affected individuals resulted in monozygotic twins concordant for Perthes' disease, but no familial concentration to suggest the action of a single major gene was found. The importance of excluding generalised disorders which may mimic Perthes' disease and may show Men‐delian inheritance is emphasised, but it is concluded that true Perthes' disease has a relatively minor genetic component.
Cultured fucosidosis fibroblasts: A simple technique demonstrating storage of tritiated‐fucose labeled material
Authors: Wood Stephen
Published: July 2010

Incorporation of tritiated fucose into the acid‐soluble and acid‐insoluble fractions of cultured fucosidosis and control fibroblast monolayers was determined over a 10‐day period. Fucosidosis cells incorporated significantly more label into the acid‐soluble, but not the acid‐insoluble fraction, than control cells. The ratio of acid‐soluble to acid‐insoluble radioactivity increased linearly from 1 to 10 days for the fucosidosis cells, indicating the storage of low molecular weight partial degradation products.
Clinical studies in benign (Becker type) X‐linked muscular dystrophy
Authors: Emery Alan E. H. , Skinner Rosalind
Published: July 2010

Ten extensive families with benign (Becker type) X‐linked muscular dystrophy have been studied, in which there was a total of 67 affected males. Reliable information was available on 41 of these males, 29 of whom were alive at the time of the study.

The disorder was characterised by a predominantly proximal myopathy, associated with pseudohypertrophy of the calf muscles, particularly in the early stages of the disease. The early development of contractures was not a feature of the disease in these families and cardiac involvement, when present, was a late manifestation. The clinical findings in these patients are discussed in detail and compared with those in a large unselected group of patients with Duchenne muscular dystrophy. The results indicate that the best criterion for distinguishing between these two disorders is the age of becoming chair‐bound.

Electrocardiographic studies revealed no consistent abnormality and no evidence of an abnormal algebraic sum of the R and S waves in lead Vi, as is found in patients with Duchenne muscular dystrophy.

Serum creatine kinase levels are significantly elevated, particularly in the early stages of the disease, and in this way preclinical cases may be identified.
X‐short arm deletion gonadal dysgenesis in two siblings due to unique translocation (Xp‐;16p+)
Authors: Davis John R. , Heine M. Wayne , Lightner Elmer S. , Giles Harlan R. , Graap Raymond F.
Published: July 2010

A family demonstrating short arm deletion of the X chromosome as a consequence of X‐16 balanced translocation in the mother is reported. The two Xp‐ sisters exhibit clinical signs of gonadal dysgenesis, while the balanced carriers are phenotypically normal. To our knowledge this represents the only example of both the balanced carrier state for an X translocation and its genetic consequence occurring in the offspring, as well as the involvement of X‐16 interchange. Literature data of 37 additional cases of verified X translocations are discussed.
Frontonasal dysplasia. Possible hereditary connection with other congenital defects
Authors: Bakken Arne F. , Aabyholm Gunnar
Published: July 2010

A previously undescribed type of frontonasal dysplasia is reported. The malformations found are deformity of the nasal cartilages and a mild degree of hypertelorism. In the family of the patient there is an accumulation of other types of congenital malformations.
Multiple non‐erupting teeth, maxillo‐zygomatical hypoplasia and other congenital defects: An autosomal recessive disorder
Authors: Stoelinga P. J. W. , Koomen H. A. de , Davis G. B.
Published: July 2010

A new syndrome is described, affecting four persons in one family; it includes multiple non‐erupting teeth with cementum defects, hypoplasia of the alveolar process and the maxillo‐zygomatical region, genua valga and ear deformities. An autosomal recessive trait could be ascertained.
A familial syndrome of cranial, facial, oral and limb anomalies
Authors: Fitch Naomi , Jequier Sigrid , Papageorgiou Apostolos
Published: July 2010

A family is described in which two male infants have microcephaly, abnormal ears, anti‐mongoloid slant, small mouth, cleft palate, flexed overlapping fingers with syndactyly of digits three and four, syndactyly of the second to the fifth toes, and normal karyotype. This seems to be a new syndrome.
Prenatal diagnosis of 45,X/46,XY mosaicism with postnatal confirmation in a phenotypically normal male infant
Authors: Hsu Lillian Y. F. , Kim Hyon J. , Hausknecht Richard , Hirschhorn Kurt
Published: July 2010

Prenatal detection of chromosome mosaicism has always been a diagnostic dilemma. In 21 reported cases of chromosomal mosaicism in cultured amniotic fluid cells, only two cases had cytogenetic confirmation of the mosaicism. All 21 pregnancies resulted in either phenotypically normal liveborns or grossly normal abortuses. We report a case of XO/XY mosaicism detected prenatally and confirmed postnatally in a grossly normal male infant. The indication for prenatal cytogenetic diagnosis was advanced maternal age (38 years). A diagnosis of XO/XY mosaicism was made from two separate culture flasks of amniotic fluid cells, with 45,X cells predominating (86.4 %). The Y chromosome was of normal size but carried no fluorescent band. The parents were counseled and were advised that the phenotype of XO/XY mosaicism can range from relative normality to sexual maldevelopment. They decided to continue this pregnancy. The infant was born at term and was a grossly normal male with normal penis and descended, normal‐sized testes. Leukocyte culture from the cord blood and a skin fibroblast culture confirmed the mosaicism of XO/XY. The father's Y chromosome was of identical size and carried a small fluorescent band. It appears that an altered Y chromosome may be predisposed to anaphase lag leading to mosaicism.
A methodology for establishing a diagnostic index for syndromes of unknown etiology
Authors: Preus M. , Fraser F. C.
Published: July 2010

A method has been developed to test for heterogeneity in syndromes of unknown etiology and to distinguish between patients with and without the syndrome. The validity of the method was tested on a group of patients suspected of having a syndrome that can be diagnosed by other means (Down syndrome), and was found to be effective. The method was then applied to a group of patients suspected of having a syndrome of unknown etiology (de Lange). It was shown that the group appears to be heterogeneous. A preliminary diagnosis of having or not having the syndrome was made in about 80 % of the patients.
Prenatal diagnosis of fucosidosis
Authors: Poenaru Livia , Dreyfus Jean‐Claude , Boue Joëlle , Nicolesco Henriette , Ravise Nicole , Bamberger Jacques
Published: July 2010

A pregnancy from a family at risk for fucosidosis was monitored. Determinations of fucosidase and mannosidase were performed on the serum and white blood cells of several members of the family, on amniotic fluid and amniotic fluid cells of the fetus at several passages, and on fibroblast cell lines from index cases. The fetus was diagnosed as being free from the disease.

This conclusion was confirmed after birth by fucosidase determination in plasma and white cells from cord blood, and in the placenta. Fluctuations in fucosidase activity were observed in extracts from cultured amniotic cells at various passages. The possible causes of this variability are discussed.
True hermaphroditism with XX/XY sex chromosome mosaicism: Report of a case
Authors: Marchi M. De , CARBONARA A. O. , Carozzi F. , Massara F. , Belforte L. , Moldsatti G. M. , Bisbocci D. , Passarino M. P. , Palestro G.
Published: July 2010

A case of true hermaphroditism with 46, XX/46, XY karyotype is reported. The propositus, reared as a male, showed ambiguous external genitalia with perineoscrotal hypospadias, and internal genitalia represented by bilateral ovotestes, normal uterus and tubes. Periodic menstrual bleedings appeared at puberty. The endocrinologic data demonstrated the secretory activity of both the ovarian and the testicular tissue. The analysis of red cell, lymphocyte and serum markers, done on the propositus and on his parents, failed to show any evidence of double fertilization. On this basis, the origin of the XX/XY condition (mosaicism versus chimerism) and its developmental consequences are discussed.
Sanfilippo B disease in two related sibships. Biochemical studies in patients, parents and sibs
Authors: Liem K. O. , Giesberts M. A. H. , Kamp J. J. P. van de , Pelt J. F. van , Hooghwinkel G. J. M.
Published: July 2010

In two related Sanfilippo B families, comprising 27 individuals, some biochemical parameters were studied. After detection of the patients, an attempt was made to distinguish between heterozygotes and normals. The excretion of glycosaminoglycans in the urine and N‐acetyl‐α‐D‐glucosaminidase activity in leukocytes and plasma were taken as parameters for the study. The determination of N‐acetyl‐α‐D‐glucosaminidase activity in plasma is considered to be the most suitable method for heterozygote detection.
Clinical variability in Sanfilippo B disease: a report on six patients in two related sibships
Authors: KAMP J. J. P. van de , PELT J. F. van , Liem K. O. , Giesberts M. A. H. , Niepoth L. T. M. , Staalman C. R.
Published: July 2010

Two closely related sibships are described in which six definite and two probable patients with Sanfilippo B disease were found. The wide variation in phenotypic expression in these patients is suggestive of a genetic background effect.
Hypertrichosis lanuginosa in a mother and son
Authors: Frejre‐Maia N. , Felizau J. , Figueiredo A. C. de , Opitz John M. , Parreira Marisa , Maia Néria A.
Published: July 2010

Hypertrichosis lanuginosa (without gingival hyperplasia) is described in a mother and son; the latter also had photophobia, infantile genitalia, growth retardation, hypotension, low IQ and dental abnormalities (hyperdontia, permanence of deciduous and delayed eruption of permanent teeth). Both have normal dermatoglyphics. Some clinical findings are discussed. The presence of this syndrome in a mother and son supports an autosomal mode of inheritance (with variable expressivity). Hypertrichosis lanuginosa is a pure monomultidysplasia and may be classified with the tricho‐odontic sub‐group of the ectodermal dysplasias.
The frequency of PKU and hyperphenylalaninemia in Sweden ‐ a study in institutions for the mentally retarded as well as in neonates
Authors: Holmgren Gösta , Larsson Agne , Palmstierna Hans , Alm Jan
Published: July 2010

In a country‐wide screening examination in Sweden, PKU was observed in 75 (4.5 per 1,000) and hyperphenylalaninemia in 14 (0.8 per 1,000) of a total of 16,805 patients in institutions for the mentally retarded. In the national neonatal screening program in 1965–1975, which covered nearly 1 million individuals, PKU was observed in 36 and hyperphenylalaninemia in 19 individuals. The incidences of PKU and hyperphenylalaninemia in newborns are calculated to be 1/26,000 and 1/50,000, respectively. In addition, PKU and hyperphenylalaninemia were diagnosed in 14 and 1 non‐institutionalized individuals, respectively, born before September 1965.

The total numbers of individuals detected as having PKU and hyperphenylalaninemia in Sweden in the present investigation are 125 and 34, respectively.
Partial monosomy or trisomy resulting from crossing over within a rearranged chromosome 1
Authors: Garver Kenneth L. , Ciocco Angela M. , Turack Nancy A.
Published: July 2010

Two sibs, both monosomic for the same portion of lq (q25q32), had similar severe mental and physical retardation. An older sib was found to be trisomic for the same portion of 1q and less severely affected. These partially monosomic and partially trisomic No. 1 chromosomes resulted from meiotic crossover in the mother, who is a balanced hetero‐zygote of the type 46.XX, ins (1) (p32q25q32).
Aberrant axillary breast tissue: A report of a family with six affected women in two generations
Authors: Weinberg Sarah K. , Motulsky Arno G.
Published: July 2010

A family with bilateral accessory axillary breasts without nipples or areolae in six adult females of two generations is reported. The anomaly is most likely caused by an autosomal dominant gene of variable expressivity which prevents normal regression of the embryonal mammary ridge. Accessory breasts with and without nipples and areolae have been seen in another family in the literature. In the absence of areolae or nipples the trait will usually be undetectable in prepubertal females and in males of all ages.
Structural aberrations of the long arm of chromosome no. 22: Report of a family with translocation t(11;22) (q25;q11)*
Authors: Fu Wei‐ning , Borgaonkar Digamber S. , Ladewig Peter P. , Weaver Jane , Pomerance Herbert H.
Published: July 2010

A chromosomal translocation t(11;22) (q25;q11) is described in a family. Four members, in two generations, had the same translocation but showed phenotypic variation. Case reports of chromosome aberrations involving the long arm of chromosome 22 associated with and without chronic myeloid leukemia (CML) are reviewed. It appears that the distal segment of the long arm of chromosome 22 is either translocated or deleted, resulting in congenital anomalies, presumably due to chromosome imbalance. In other instances, a specific breakpoint on 22q results in the origin of Philadelphia chromosome (Ph1) associated with CML.
Survey of amniocentesis for fetal sex determination in hemophilia carriers
Authors: Spiro Roberta , Lubs Marie‐Louise
Published: July 2010

A study was designed to determine whether there is an increased risk of complications when amniocentesis for fetal sex determination is performed on hemophilia carriers. Questionnaires were sent to 112 medical centers providing this service in the United States, and to 19 outside the United States. Responses were received from 76 % of the centers in the United States. Data on 11,819 taps were obtained. Only 75 taps (0.64%) were performed for the indication of hemophilia. The frequency of fetal deaths in the general sample (1.84 %) was not significantly different from that in the subsample of hemophilia carriers (1.33 %). The results of this survey correspond very closely to data from a National Registry on amniocentesis for various indications in such variables as the number of taps needed for diagnosis, color of the fluid obtained, and number of dry taps. Carrier women who had bleeding problems during the monitored pregnancy are described. The problems might have been related to the amniocentesis in three women. It is calculated that only 2–4 % of hemophilia carrier women who might have amniocentesis are utilizing the service.
An unusual partial trisomy 13
Authors: Stoll Claude , Messer Jean , Weitzenblum Shirley , Warter Stephanie
Published: July 2010

Clinical signs of a partial trisomy of the long arm of a chromosome 13 were present in a boy with a “de novo” translocation 13p+/13q‐.
Inherited t2q‐/15q+ translocation and Down's syndrome
Authors: Stoll Claude , Kuss Jean‐Jacques , Schneegans Ernest
Published: July 2010

A patient with typical Down's syndrome was found to have free trisomy 21 and a balanced, familial 2/15 translocation.

The correlation between the trisomy and the familial translocation is discussed.
Split‐hand and split‐foot deformity inherited as an autosomal recessive trait
Authors: Verma Ishwar c. , Joseph Rose , Bhargava Sneh , Mehta Sadanand
Published: July 2010

A intermarried consanguineous family with split‐hand and ‐foot deformity occurring in two sibship is presented. Both the sibship resulted from marriage between first cousins. This report, together with those of Ray (1960) and Freire‐Maia (1971), further demonstrates that split‐hand and ‐foot deformity can be inherited as an autosomal recessive trait.
Aarskog syndrome: New oral‐facial findings
Authors: Melnick Michael , Shields Edward D.
Published: July 2010

The Aarskog syndrome is characterized by short stature with typical facial, digital and genital anomalies. A further case is reported which presented with the uncommon finding of ophthalmoplegia and three previously unreported oral‐facial findings: enamel dysplasia, a “col” deformity of the anterior mandible and a paresis of the facial muscles innervated by the VII cranial nerve. The implications of genetic heterogeneity in this nosologic classification are discussed.
Familial branchio‐oto‐renal dysplasia: A new addition to the branchial arch syndromes
Authors: Melnick Michael , Bixler David , Nance Walter E. , Silk Kenneth , Yune Huen
Published: July 2010

The present report concerns a two‐generation family of nine individuals in which the father and three of the six living children all had: (1) a mixed hearing loss with a Mondini type cochlear malformation and stapes fixation; (2) cup‐shaped, anteverted pinnae with bilateral prehelical pits; (3) bilateral branchial cleft fistulas; and (4) bilateral renal dysplasia and anomalies of the collecting system. The father and one affected son also had aplasia of the lacrimal ducts. A fourth child who died at 5 months of age was reported to have branchial cleft fistulas and bilateral polycystic kidneys at autopsy. In addition, the concept of noso‐embryologic communities is presented. Such groups are composed of syndromes whose total phenotypic spectra not only overlap but also share common elements in embryogenesis. This concept is illustrated with a group of branchial arch syndromes that are related in this way.
Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs
Authors: Bowen P. , Armstrong H. B.
Published: July 2010

Three females in a sibship of 10 have a syndrome of mental retardation, ectodermal dysplasia, and cleft lip and/or cleft palate. Inconstant features are congenital skin defects, areas of hyperpigmentation, congenital adhesions between the eyelids, cicatricial atrophy of the scalp, abnormal E.E.G., partial anodontia, genital hypoplasia, syndactyly, and delayed skeletal growth and maturation. The mode of inheritance could be either dominant with incomplete penetrance, or autosomal recessive. The disorder has overlapping features with several previously delineated syndromes but in view of certain novel features its relationship to these is uncertain.
Triploidy syndrome: A report on two live‐born (69, XXY) and one still‐born (69, XXX) infants
Authors: Saadi A. Al , Juliar Joseph F. , Harm John , Brough A. Joseph , Perrin Eugene v. , Chen Harold
Published: July 2010

Two live‐born cases, 69, XXY and one stillbirth, 69, XXX are reported. Further evidence is presented to delineate the triploidy syndrome. Common external and internal features which characterize the triploidy syndrome are low‐set ears, hypertelorism, colobomata, syndactyly, simian creases, microphallus, undescended testes, scrotal aplasia, anomalous heart and hypoplasia of kidneys and adrenals. The triploidy syndrome encompasses features found in trisomies 13, 18 and 21. We suggest that the abnormal development of the triploidy infants is the result of the mentioned trisomies and their subsequent effect on the remaining genome.
A dermatoglyphic study of 219 Italian schizophrenic males
Authors: Kemali D. , Polani N. , Polani P. E. , Amati A.
Published: July 2010

The quantitative and qualitative finger and palm ridge characteristics of a sample of Italian schizophrenic males showed minor deviations which were neither pathognomonic of the illness as a whole, nor of its Leonhard sub‐groups. In essence there was a slight tendency for an increase in finger loops, particularly on middle fingers, with a decrease of whorls, and the palmar ridges tended to a more transverse course than usual. Compared with two sets of controls there was an excess of short schizophrenic males.
Chromosome studies in ovarian hypoplasia
Authors: László J. , Gaál Magda , Bósze P.
Published: July 2010

Six phenotypic female patients characterized by an average stature, infantile body constitution, underdeveloped external and internal reproductive organs and secondary sex characteristics and amenorrhoea are described. In each of them laparotomy and histological study disclosed ovarian hypoplasia. The karyotype was 46, XX in all patients except one. However, the metaphase analysis extending over a greater than usual number of cells revealed an autosomal ring (15) in 5 to 26 % of cells. The patients also showed phenotype signs of D chromosome anomalies. The authors agree with the previously suggested autosomal gene effect in sex differentiation.
Incidence of albinism in British Columbia (B.C.). Separation by hairbulb test
Authors: McLeod R. , Lowry R. B.
Published: July 2010

The incidence of albinism in British Columbia in livebirths between 1952 and 1970 was 1/20,600. Using the hairbulb incubation test, incidences of 1/67,800 for Type I albinism and 1/35,700 for Type II albinism were also calculated.
Essential tremor, nystagmus and duodenal ulceration: A “new” dominantly inherited condition*
Authors: Neuhäser Gerhard , Daly Richard F. , Magnelli Norma C. , Barreras Robert F. , Donaldson Robert M. , Opitz John M.
Published: July 2010

The familial occurrence of essential tremor combined with (congenital) nystagmus, duodenal ulceration and a narcolepsy‐like sleep disturbance caused by an autosomal dominant gene with high penetrance and fairly uniform expressivity is reported in a family of Swedish‐Finnish ancestry. Twelve of 17 affected family members had essential tremor which began between 30–40 years of age and which could be controlled temporarily by alcohol; this resulted in alcoholism in several affected individuals. The most severely affected persons showed cerebellar signs which may reflect a possible pathogenetic relationship of the syndrome to the genetic cerebellar atrophies. Nystagmus, observed in 12 of 17 affected family members (eight of whom were also affected with tremor) usually was congenital and accompanied by refractive errors. Duodenal ulcers occurred almost exclusively in individuals with the neurological syndrome, and preceded its onset in some cases. The ulcer disease therefore seems to be a component manifestation of the syndrome and is interpreted as a pleiotropic effect of the gene which also causes the nystagmus, tremor and sleep disturbance.
Inheritance of xanthomatosis and hyper‐β‐lipoproteinaemia: A study of 7 large kind reds
Authors: Heiberg Arvid
Published: July 2010

In a study of xanthomatosis in the county of Östfold, Norway (220,000 inhabitants), it was found that 20 % (37 out of 185) of the probands belonged to seven large kindreds where xanthomatosis and hyper‐β‐lipoproteinaemia segregated. Almost complete ascertainment (99 %) of living subjects in the sibships in these families was obtained.

Within each kindred, the frequency distribution of age‐ and sex‐adjusted cholesterol and LDL cholesterol were discontinuous; the xanthomatosis patients all had values corresponding to the upper mode, whereas no person without xanthomatosis had such values. The combined results showed a slight overlap. Triglyceride concentrations were unimodally distributed.

The genetics of the disorder in the seven families was analysed on the basis of 270 individuals. The segregation pattern satisfied the criteria for autosomal dominant inheritance, but not those for a polygenic trait. Thus, xanthomatosis with hyper‐β‐lipoproteinaemia segregates as an autosomal dominant trait in these seven kindreds. No evidence of reduced penetrance was found.

Since both IIA and IIB lipoprotein patterns were observed within the same family, there is no evidence that the two patterns reflect the presence of different genes in these kindreds.
A 45, X woman with a 47, XY, G+ son
Authors: Lajborek‐Czyź Iwonna
Published: July 2010

A woman, karyotype 45, X, aged 22, gave birth to a son with Down's syndrome. It is the fourth reported case of childbirth in a woman with monosomy X.
Histidinuria: A renal and intestinal histidine transport deficiency found in two mentally retarded children
Authors: Sabater Juan , Ferré Carmen , Puliol Maria , Maya Antonio
Published: July 2010

Two siblings presenting slight mental retardation showed an abnormal elimination of histidine, their blood levels for the same amino acid being normal. The percentage of tubular resorption of histidine was calculated in both boys, and the values were 40.1 per cent (case 1) and 52.8 per cent (case 2).

All other amino acids essayed were normal. After an oral overload test with histidine, a low intestinal absorption was found in the two boys, the values of this test in the parents being intermediate between those of the children and of the three normal controls and corresponding to heterozygosity. In view of the studies carried out on the two boys, it is possible to conclude that they are suffering from an impairment in their histidine membrane transport system which affects the kidney and intestines. Since they are siblings a genetically determined trait may be suspected.
X‐linked nonspecific mental retardation:Report of a large kindred
Authors: Yarbrough Karen M. , Howard‐Peebles Patricia N.
Published: July 2010

A seven‐generation pedigree of apparent X‐linked, nonspecific mental retardation is reported. There are 19 known affected males who appear to have received the gene through normal mothers. Retardation, lack of fine motor coordination, hyperactivity and a speech defect are the characteristics of affected individuals studied.
Red cell glucose‐6‐phosphate dehydrogenase deficiency in ethnic groups in Israel
Authors: Zaidman J. L. , Leiba H. , Scharf S. , Steinman I.
Published: July 2010

The frequency of G6PD deficiency in newborns in Israel is reported. Data in 10,668 male and female newborns among Jewish and non‐Jewish ethnic groups are summarized.
Aplastic anemia followed by leukemia in congenital trisomy 8 mosaicism:Ultrastructural studies of polymorphonuclear cells in peripheral blood
Authors: Gafter U. , Shabtai F. , Kahn Y. , Halbrecht I. , Djaldetti M.
Published: July 2010

The case of a 40‐year‐old patient with congenital trisomy 8 and sex chromosome mosaicism is discussed. The main clinical features were: mental retardation, thick and darkly pig‐mented skin, prominent forehead, convergent strabismus, high arched palate, flexion contractures of the extremities, and numerous skeletal abnormalities. The patient developed severe aplastic anemia followed by an interim period of preleukemia which developed into acute leukemia. Electron microscope examination of the white blood cells at the stage of the aplastic anemia showed ultrastructural abnormalities similar to those observed in other genetic disorders with a predisposition to leukemia, as well as in leukemia.
Further observations on familial hypobetaliproteinaemia
Authors: Tamir I. , Levtow O. , Lotan D. , Legum C. , Heldenberg D. , Werbin B.
Published: July 2010

A family with hypobetalipoproteinaemia with 10 affected members is described. In six patients low density lipoprotein cholesterol (LDL‐c) concentrations were about 10 % of normal. In four LDL‐c was reduced to about 50 % of normal; these four patients probably represent the “intermediate” form of hypobetalipoproteinaemia. This variation in total cholesterol concentration and LDL‐c among the affected individuals of the same family could reflect differences of expression in a single aberrant gene or additive expression of a gene at a second locus.
Microphotometry of banded human chromosomes II:Technique for microphotography of banding patterns
Authors: Lundsteen Claes
Published: July 2010

As part of a study of chromosome banding patterns by microphotometric measurements of photographic negatives, banded chromosomes were microphotographed in order to evaluate the importance of the size of the condensor (illumination) aperture for obtaining high resolution. The resolution was found to be closely correlated to the numerical aperture of the objective, but within wide limits it was independent of the condensor aperture. The reason is assumed to be light scattering caused by the object, which results in illumination of the full objective aperture. The optimal photographic method was found to include the use of a 63x oil planapochromate objective (NA 1.4) and a total microscope magnification of 250x.
48, XXXY Klinefelter syndrome and nail‐patella syndrome in the same child
Authors: Jansen Jette , Hansen Erik , Hobolth Niels , Jacobsen Petrea , Mikkelsen Margareta
Published: July 2010

A patient is described who in addition to having the 48, XXXY Klinefelter syndrome has the autosomal dominant nail‐patella syndrome, inherited through his mother from the grandfather. Clinical signs of both syndromes were found.

Chromosomal investigation with BUDR incorporation and acridine orange staining showed that one X chromosome stained intensively, while the other X chromosomes were elongated and weakly stained. Difference in degree of stretching of the supernumerary chromosomes was noted.

The occurrence of the two rare syndromes in the same patient is assumed to be fortuitous.
Cytogenetics of 50 patients with mental retardation and multiple congenital anomalies and 50 normal subjects:Madison blind study IV
Authors: Magnelli Norma C.
Published: July 2010

The chromosomes of 50 idiopathic mentally retarded patients with at least three other anomalies and 50 normal subjects were analyzed from randomized coded slides. The chromosomally abnormal cases were also studied by means of Q‐banding.

Seven of the patients showed a chromosome anomaly. Two had an extra G‐like chromosome, which in case M99 consisted mainly of 16p (he had also a small Y chromosome shared by his father and brother), and in case M8 of 9p. The mother and sister of M99 were balanced translocation carriers. Case M18 (published separately) had approximately half of 12p deleted. Case M60 had a deletion of 20q and trisomy for a segment which most probably came from 7p. Case M49 had a deletion of 1p and increased centric heterochromatin in 1q: the latter abnormality was shared by the father and a sister. Case M83 displayed low‐grade mosaicism for cells with an extra small ring of unknown origin. Case M38 had the brightly fluorescent distal part of the Y chromosome duplicated, and the father had the same chromosome. In the five first cases the phenotype was presumably caused by the chromosome anomaly, and in the mosaic this is a possible cause.

In the normal subjects, two persons had minor chromosome anomalies: case M68 had a pericentric inversion in the Y chromosome, which was found also in the father and the brother, and case M10 had a telocentric no. 21.

Three of the patients (M18, M49 and M99) can be regarded as type specimens for new syndromes in the sense that the chromosome anomalies causing the respective phenotypes have been identified for the first time.
Polycystic kidney disease in a patient with the oral‐facial‐digital syndrome‐Type I*
Authors: Harrod M. J. E. , Stokes J. , Peede L. F. , Goldstein J. L.
Published: July 2010

Bilateral polycystic kidneys and chronic renal failure were observed in a 48‐year‐old woman with the classic clinical features of the oral‐facial‐digital syndrome, Type I (OFD‐I). Since this association has been previously reported in two other patients, these findings suggest that polycystic kidneys may be a hitherto unrecognized manifestation of the oral‐facial‐digital syndrome.
An isochromosome of the short arms of the no. 18 chromosome in a mentally retarded girl
Authors: Balíĉek Petr , Zižka Jan , Lichý Josef
Published: July 2010

A 2.5‐year‐old girl with several congenital anomalies is described. Chromosomal analysis suggests the presence of a small extra metacentric chromosome which was identified as isochromosome 18p by means of R‐banding and C‐banding.
Autosomal recessive muscular dystrophy in Manitoba Hutterites*
Authors: Shokeir M. H. K. , Kobrinsky N. L.
Published: July 2010

A slowly progressive type of muscular dystrophy affecting 11 known members of several Southern Manitoba Hutterite colonies is described. Though encompassing the facial characteristics of the facio‐scapulo‐humeral type and the proximal distribution of the limb‐girdle type, it was felt that this disease represents a distinct type of muscular dystrophy with autosomal recessive inheritance.

Since all “affected” colonies can be traced to one founding colony in South Dakota, the disease may have been introduced from Europe between 1874 and 1879. Furthermore, normal fertility and a high degree of inbreeding in a genetically isolated population have contributed to the maintenance of the disease in the population.
The inheritance of hyperipoproteinaemia with xanthomatosis:A study of 132 kindreds
Authors: Heiberg Arvid , Berg Kåre
Published: July 2010

In a study of xanthomatosis kindreds in the county of Östfold, Norway, 95 % of the living first degree relatives of the probands were investigated. Hyperlipoproteinaemia (lipid values above the 95th percentile) was present in 40.8 % of 554 first degree relatives of probands with xanthomatosis. The distribution curve was bimodal for cholesterol and LDL cholesterol concentrations, but not for triglyceride concentration within the different categories of families.

The IIA lipoprotein pattern was the most frequent lipoprotein abnormality, in probands as well as in affected first degree relatives. However, IIB and IV lipoprotein patterns were also found in affected family members, irrespective of the pattern in the probands.

About 93 % of the xanthomatosis subjects had a lipoprotein disorder segregating as an autosomal dominant; the remaining 7 X were sporadic cases and/or had a multifactorially determined xanthomatosis. More sibs than offspring were affected; this was particularly pronounced for males with a IIA lipoprotein pattern. The genetic analysis gave no reason to suspect that hypercholesterolaemia with a IIA pattern is not the same disease as hyper‐cholesterolaemia with a IIB pattern. However, a significant number of xanthomatosis patients had more than one type of hyperlipoproteinaemia.

The frequency of the xanthomatosis trait was estimated to be 3.2/1000, and the ascertainment probability 0.6. The prevalence of familial hypercholesterolaemia with xanthomatosis was estimated to be 2.2/1000 and the multiple type hyperlipoproteinaemia with xanthomatosis had a frequency of 1.0/1000.
Cerebellar ataxia and hypergonadotropic hypogonadism in two kindreds. Chance concurrence, pleiotropism or linkage?
Authors: Skre Håvard , Bassöe Hans H. , Berg Kåre , Frövig Arne G.
Published: July 2010

Two kindreds with Marinesco‐Sjögren's syndrome in three sibships are described. In five of the six affected, but in none of the unaffected sibs, a hypergonadotropic hypogonadism was observed. In one of the kindreds a high degree of inbreeding was revealed, and inbreeding likely also existed in the other kindred. The two families were not related.

Marinesco‐Sjögren's syndrome is known to be a distinct clinical entity, governed by autosomal recessive inheritance, and this also applies to hypergonadotropic hypogonadism. Several heredo‐degenerative nervous disorders are accompanied by a hypogonadotropic hypogonadism, which is believed to be secondary to the neurological disorder, as in traumatic paraplegia. A hypergonadotropic hypogonadism cannot readily be explained in this way. We consider genetic linkage between two independent disorders as the most likely explanation for the observed concurrence.
Inheritance of hypoplastic left heart syndrome (HLHS): Further observations*
Authors: Brownell L. G. , Shokeir M. H. K.
Published: July 2010

From a survey of newborn infants using truncate ascertainment of families through affected offspring, 64 cases of hypoplastic left heart syndrome (HLHS) were found. Pedigree information was obtained from 42 families. The incidence of HLHS, based on 64 affected infants, was 36.5/100,000 births. The incidence of HLHS with aortic and/or mitral atresia was 25.1/100,000 births. The recurrence among later siblings was about 2 %. Autosomal recessive hypothesis of transmission of this disorder was not supported. Using Edwards' formula, the observed recurrence among later siblings was compatible with polygenic inheritance.
Partial trisomy of the long arm of chromosome 7
Authors: Saadi A. Al , Moghadam Hassan A.
Published: July 2010

A baby with partial trisomy 7, 46, XY, t (5;7) (q35;q31) resulting from a familial trans‐location (5qf,7q‐) is reported. The clinical abnormalities of this case closely resemble those of previously reported cases of partial trisomy 7. It is suggested that partial trisomy 7 may represent a clinical entity.
Psychological responses to genetic counseling for Down's syndrome
Authors: Antley Ray M. , Hartlage Lawrence C.
Published: July 2010

To assess some of the emotional aspects of why parents seek genetic counseling and to measure the effect of genetic counseling in parents of children with Down's syndrome, pre‐and post‐counseling measures of anxiety, hostility, depression, and self‐concept were obtained from 43 parents. Pre‐counseling responses were compared with those of normative controls, and pre and post‐counseling scores were compared for areas of significant change.

Anxiety, hostility and depression levels were significantly higher in parents seeking counseling than in normative controls (both P < 0.002). Following genetic counseling, there was a significant lowering of anxiety (P < 0.0005) and depression (P < 0.05) along with a significant increase in overall self‐concept (P < 0.01). The study documents the importance of looking at factors related to emotional needs and self‐image of parents in genetic counseling.
Cardio‐cutaneous syndrome (the “LEOPARD” syndrome). Review of the literature and a new family
Authors: Seuanez H. , Mañe‐Garzon F. , Kolski R.
Published: July 2010

Numerous reports of familial cardiac disorders associated with abnormalities of cutaneous pigmentation have appeared in the literature. In some of these there have been other somatic malformations including retardation of growth and anomalous development of the genitalia. In this paper we review the literature and describe another family with multiple lentigines occurring in six members out of eight examined. They were reported to occur in 10 other members not seen by us. The trait showed an autosomal dominant mode of inheritance and appeared to be transmitted by affected fathers. In previous reports transmission has usually been through an affected mother. In five of the six patients examined, only skin abnormalities were detected, but in the propositus the lentigines were associated with retardation of growth, hypertelorism, abnormal genitalia and complete atrioventricular block. The possible explanations for the lack of pleomorphy in other members of the family are discussed.
A genetic study of facial clefting in Northern England
Authors: Bear J. C.
Published: July 2010

A family study is reported of 500 facial cleft index cases, attendees for plastic surgery review at hospitals in northern England. Cases displaying malformation syndromes (29 cases, 5.8% of series) were excluded from analysis, after which CL ± P and CP pedigree data were examined for evidence of polygenic inheritance. The frequencies of affected among parents, aunts and uncles, and first cousins of 324 CL ± P index cases are respectively 21, 6 and 4 times the population incidence. The sex ratio among index cases increases with severity of defect. Both of these findings are in good agreement with the polygenic mode of inheritance favored for this condition. The frequencies of affected among parents, aunts and uncles, and first cousins of 147 CP index cases are respectively 30, 5, and 9 times the population incidence. Since syndrome‐associated clefts have been excluded from analysis, this elevated incidence in first cousins favors the suggestion that multiple genetic forms of CP may exist.
Hypospadias in successive generations ‐ possible dominant gene inheritance
Authors: Lowry R. B. , Kliman M. R.
Published: July 2010

Two families were ascertained with multiple cases of hypospadias. In one family, four generations were reported to be affected and this was proven in three generations. In the second family, a father and two sons were affected. We suggest that dominant gene inheritance may be responsible for a small number of hypospadias cases. The incidence of hypospadias in British Columbia is 1 per 250 live male births and, using Edwards' formula, this gives a theoretical empiric recurrence risk of about 6%.
A new chromosome deletion syndrome. Report of a patient with a 46, XY,8p‐ chromosome constitution
Authors: Orye E. , Craen M.
Published: July 2010

A mentally retarded boy with narrow cranium, high forehead, epicanthic folds, flat nasal bridge, low‐set but normal ears, retrognathy, short neck and broad chest with wide‐set nipples is described. The routine chromosome and banding analyses revealed a 46, XY,8p— chromosome constitution. The parents had normal chromosomes. On the basis of measurements on reflectodensitometer tracings and of measurements of the individual G‐bands directly on photographic prints of the normal and abnormal chromosome 8, an intercalary deletion of band p22 seemed most probable. The clinical features of the patient are compared with the 8p‐ case of Lubs & Lubs (1973) as well as with four other cases of short arm deletion of an unidentified C‐autosome. The clinical features of one of these cases were very similar to those of the boy described. An attempt was made to delineate the clinical characteristics of this new chromosomal deletion syndrome.
Re‐evaluation of the effect of spray adhesives on human chromosomes
Authors: Lubs H. A. , Verma R. s. , Summitt R. L. , Hecht F.
Published: July 2010

The possible effects of spray adhesives on human chromosomes were re‐examined in several ways by three different laboratories. A total of 3,382 metaphases were analyzed in a blind‐coded fashion. The proportion of abnormal cells, including gaps, was similar in both the control (8.2%) and exposed (8.3%) samples. Our findings do not confirm the original investigation in which the proportion of abnormal cells was found to be significantly higher in the exposed group (8.99%) than in the control group (1.65%). In the earlier study, however, blind‐coded slides were not employed. These and other studies show no positive evidence of an effect of spray adhesives on human chromosomes.
Familial spastic paraplegia with distal muscle wasting in the Old Order Amish; atypical Troyer syndrome or “new” syndrome*
Authors: Neuhäuser Gerhard , Wiffler Colette , Opitz John M.
Published: July 2010

The Troyer syndrome was found by Cross & McKusick (1967) in 20 members of 12 Old Order Amish families in Holmes County, Ohio; it is a form of hereditary spastic paraplegia combined with distal muscle wasting, i.e. signs of involvement of lower motor neurons. The condition usually begins at 1 to 2 years and progresses at variable rates. Further manifestations include growth retardation, delayed speech development with dysarthria and drooling, and cerebellar signs; mental functions are usually not affected but severe emotional lability is a common finding. Brothers in a Wisconsin Old Order Amish family are reported with spastic diplegia, mental retardation, behavioral disorder and shortness of stature; the condition apparently is not progressive, and may be a “new” syndrome but could also represent a variant of the Troyer syndrome. Autosomal recessive inheritance is most likely, although consanguinity of the parents could not be proven. Another child in this family suffers from focal scleroderma (morphea) which is not related to the neurological syndrome.
Autosomal recessive syndrome of pseudogliomatous blindness, osteoporosis and mild mental retardation
Authors: Neuhauser Gerhard , Kaveggia Elisabeth G. , Opitz John M.
Published: July 2010

We report a sibship of three sisters and two brothers who showed osteoporosis of variable severity; the propositus has incapacitating deformities following numerous fractures. Four of the sibs, including three with frequent fractures, were blind from infancy (“pseudogliomatous blindness”). In addition, two were mentally retarded. The osteoporosis‐pseudoglioma syndrome is inherited as an autosomal recessive trait; similar reports from the literature support this assumption.