bluuebunny/crossref_metadata_2025 huggingface dataset:
Deletion of the long arm of chromosome no. 7: Tentative assignment of the Kidd (Jk) Locus
Authors: Shokeir M. H. K. , YING K. L. , PABELLO P.
Published: July 2010

A 22‐year‐old female presented with stunted physical growth, moderate mental retardation, urinary malformation, renal insufficiency, hypercorticalism and abnormal neurological findings. Physical stigmata including hypertelorism, bilateral simian creases and abnormal dermatoglyphics were also observed. Cytogenetically, a translocation involving chromosomes No. 2 and 7 with deletion of the long arm of the latter was detected. A discrepancy in the inheritance of Kidd (Jk) blood group system provisionally suggests the localization of the relevant locus on the long arm of chromosome No. 7.
Cystic fibrosis: Synthesis of ciliary inhibitor by amniotic cells
Authors: Bowman Barbara H. , Lockhart Lillian H. , Herzberg Victoria L. , Barnett Don R. , Armstrong Donald , Kramer John
Published: July 2010

The presence of a ciliary inhibitor in media of cultured amniotic cells obtained from a fetus heterozygous for cystic fibrosis has been observed by the oyster gill cilia assay. The chromatographic fraction containing the inhibitor corresponded to eluted fractions chromatographed from cystic fibrosis fibroblast media and serum. An analogous chromatographic fraction from media of cultured amniotic cells from two proportedly normal fetuses did not inhibit cilia. The chromatographic fraction from media of cultured amniotic cells of a fetus at high risk for cystic fibrosis did not inhibit ciliary activity. Serum was collected from this baby seven weeks after birth and also did not inhibit ciliary action, indicating a homozygous normal genotype. These observations may lead to the development of an antenatal test for cystic fibrosis.
Antenatal genetic diagnosis in a kindred with a 15p+ chromosome
Authors: Hahnemann Niels , Eiberg Hans
Published: July 2010

Karyotype studies arc reported in 15 members of a kindred, a 15p+ marker chromosome being present in six of the members, including the proband as well as her mother and aunt. The proband was a Down's syndrome patient with a regular trisomy‐21 besides the marker chromosome. The marker chromosome could represent a Y/15 translocation, as judged from morphology and an intensive fluorescence of the extra material, or it could possibly be interpreted as a giant satellite. In relation to a case of genetic counseling in the aunt, including prenatal diagnosis, the question whether the marker chromosome may imply an increased risk of pathologic offspring is considered.
A partial trisomy of chromosome 1 in a family with a t(1q−;4q+) translocation
Authors: Neu Richard L. , Gardner Lyn I.
Published: July 2010

A female infant with approximately one‐third of the terminal portion of the 1q chromosome arm attached to the end of a 4q arm (46,XX,4q+) is described. The proposita's mother, maternal grandfather and uncle are balanced translocation carriers 46,XX or XY,t(1q‐;4qf). The clinical findings were: elfin‐like facies, low set ears with large pinnae, and numerous cardiac anomalies. The proposita expired at eleven weeks of age.
Partial trisomy 14q—and pseudoxanthoma elasticum
Authors: Muldal S. , Enoch B. A. , Ahmed A. , Harris R.
Published: July 2010

An adolescent mentally retarded child with short stature is described. Clinical and histological features of pseudoxanthoma elasticum (PXE) were present in the skin. Karyotype examination revealed an extra autosome roughly comparable in size to a G group chromosome. Detailed fluorescent and Giemsa banding analysis identified the extra chromosome as a 14q‐. It is probable that many other reported cases of non mongoloid trisomy involving G‐sized autosomes are similar to this case and are associated with partial trisomy of D group chromosomes. Viability and severity of abnormalities will depend on how much euchromatin has been deleted.
A family with dysostosis cleidocranialis in twins. With rare or never mentioned aspects in the relatives
Authors: Weerdt C. J. de , Wildervanck L. S.
Published: July 2010

A family with typical marks of dysostosis cleido‐cranialis with one concordant monovular and two discordant biovular twins, is described. Various members of this family present hypoplastic shoulder blades, congenital coxal luxations and an aberrant form of the heel bone. The monovular twin and a cousin showed evident initial psychomotoric retardation.
The genetics of hereditary angioedema: A hypothesis
Authors: Shokeir M. H. K.
Published: July 2010

A family with the “common” or “conventional” variety of hereditary angioedema is presented. Typical autosomal dominant transmission is clearly demonstrated, Very low levels of qualitatively normal Cl̄ esterase inhibitor (Cl̄lNH) were found among affected individuals. A hypothetical model is outlined to explain the extreme quantitative deficiency in the synthesis of the alpha‐2 neuraminoglycoprotein Cl̄lINH. A further suggestion is advanced to account for the rarer “genetic variant” type of hereditary angioedema.
Biophysical and biochemical studies of the hair in cartilage‐hair hypoplasia
Authors: Kelling Collyer , Goldsmith Lowell A. , Baden Howard P.
Published: July 2010

The hair from four patients with classical cartilage‐hair hypoplasia (CHH) was studied with respect to its stress‐strain characteristics, amino acid composition, solubility in 6 M urea containing reducing agents, and the electrophoresis of the isolated S‐carboxymethylated proteins in acrylamide gels containing 6 M urea. Many CHH hairs had the mechanical properties of hairs with reduced disulfide bonds and these properties returned to normal after five minutes' oxidation with 3 % hydrogen peroxide, There was decreased solubility of CHH hair with a deficiency of the filamenlous proteins when 0.1 M mercaptocthanol was the reducing agent; with 0.1 M dithiothreitol as reducing agent, the yield of proteins increased and the electrophoretic pattern was normal. The filamentous and matrix proteins of CHH hair have no gross structural defects, and it is suggested that the decreased reactivity of some disulfide bonds may he responsible for the abnormal biophysical and biochemical characteristics of this hair.
Trisomy of the short arm of chromosome 8: Association with translocation between chromosomes 8 and 22 46,XY,22−,t(8p22q)+
Authors: Rosenthal Ira M. , Krmpotic Eva , Bocian Maureen , Szego Katarina
Published: July 2010

The case of a retarded child with trisomy of the short arm of chromosome 8 associated with translocation between the short arm of chromosome 8 and the long arm of chromosome 22 is reported. Balanced translocation involving the same chromosomes was present in the mother and brother of the propositus. The specific chromosomes involved in the abnormality in this family were identified by use of fluorescence microscopy with quinacrine mustard staining, autoradiography and Giemsa banding. This appears to be the first case report of this anomaly, although trisomy of the short arm of chromosome 9 has been reported previously.
Trisomy 18 and 21 in two siblings
Authors: Crandall Barbara F. , Ebbin Allan J.
Published: July 2010

While a child with trisomy 21 is a generally accepted indication for amniocentesis in succeeding pregnancies, the need for this prenatal test following a child with trisomy 18 is less certain. Although the likelihood of two successive pregnancies resulting in trisomies (18 and 21) appears to be small, it may be more common than is generally realized due to the high mortality of trisomy 18 prior to diagnostic studies.
Red cell polymorphisms in Down's syndrome. Gene frequencies and phenotype associations
Authors: Rundle A. T. , Sudell Barbara
Published: July 2010

The phenotype frequencies of red cell phosphoglucomutase (PGT), acid phosphatase (ACP), adenylate kinase (AK), 6‐phosphogluconate dehydrogenase (PCD), adenosine deaminase (ADA), alanine aminotransferase (ALA), isocitric dehydrogenase (ICD) and glucose‐phosphate dehydrogenase (G‐6‐PD) and the ABO blood groups were investigated in a group of 256 subjects with Down's syndrome and 409 subjects with mental retardation but without chromosomal defects. The estimates and standard errors of the gene frequencies, deviations from the Hardy‐Weinberg law and between‐group comparisons by Haldane's log ratio test were determined.

G‐tests were carried out between all systems to detect any phenotype association, and gene‐counting and subsequent G‐tests were performed to investigate possible gene associations. During these association tests, data presented elsewhere on haptoglobin (Hp) and group specific proteins (Gc) were included.

No inter‐group differences could be detected, but positive associations between PGT and ACP were found in the Down's group and for Hp vs. ADA and Hp vs. ACP in the control group.

A sex difference was found in the PGT phenotypes in the Down's subjects, principally in the age range 0–18 years, and an excess of type B in the ABO groups of the Down's subjects was observed.

Three examples of rare variants were observed in the Down's subjects, one example of the PGT2 type 3:1, one subject with a G‐GPD type A and one subject with a variant PGI) phenotype not reported previously.
The Schwartz syndrome in Southern Africa
Authors: Beighton Peter
Published: July 2010

Two brothers from the Cape Coloured community of Southern Africa had the typical features of the Schwartz syndrome. The consanguinity of their parents provides further evidence to indicate autosomal recessive inheritance of the condition.
G, R and C banding patterns of human chromosomes produced by heat treatment in organic and inorganic salt solutions
Authors: Eiberg Hans
Published: July 2010

Various procedures for obtaining G, R and C bands of human chromosomes are described, all comprising treatment at 65d̀C for 22 hours in salt solutions containing different chlorides of alkaline metals, alkaline earth metals and different anions of sodium. It is concluded that the banding patterns depend upon the initial condition of the chromosomes, the pH and the kind of salt applied during the heat treatment; the pH during heat treatment depends upon the number of slides (area of exposed glass surface), temperature, duration, as well as concentration and kind of salt.
The electrocardiogram and sex chromosome aneuploidy
Authors: Price W. H. , Lauder I. J. , Wilson J.
Published: July 2010

A further study of the electrocardiogram in patients with sex chromosome abnormalities who have no evidence of heart disease is described. It is confirmed that in 47, XYY males the atrioventricular conduction is delayed and that in 45, X females it is accelerated. In 47, XYY males there is also a higher than normal frequency of minor defects of intraventricular conduction. No significant deviation from normal was found in the electrocardiogram of men with a 47, XXY karyotype or in 47, XXX women. The significance of the finding is discussed.
Multiple epiphyseal dysplasia tarda
Authors: Gamboa Ivanhoe , Lisker Rubén
Published: July 2010

The pedigree is described of a Mexican family with multiple epiphyseal dysplasia tarda (MEDT) suggestive of autosomal recessive inheritance. The parents were probably consanguineous and three of the five siblings of the propositus had the disease. The affected individuals had a total of 13 normal offspring, which makes dominant inheritance quite unlikely. Although most cases of MEDT follow an autosomal dominant pattern there are several families like that presented here, which suggests that this condition is heterogeneous.
Klinefelter's syndrome, LSD usage and acute lymphoblastic leukemia
Authors: Sohn Ki‐Yong , Boggs Dane R.
Published: July 2010

A 19‐year‐old boy, with Klinefelter's syndrome and a history of LSD usage, developed acute lymphoblastic leukemia. The possibility is discussed that this was caused by cytogenetic injuries subsequent to LSD exposure and the inherited chromosomal anomaly acting in concert.
Congenital severe generalized muscle hypertonia during wakefulness: A distinct autosomal recessive disorder
Authors: Cantú J. M. , Cuéllar A.
Published: July 2010

Congenital, severe, generalized muscle hypertonia during wakefulness, and normotonia during sleep were observed in a male infant, and were indirectly ascertained to have been present in six out of his 19 sibs. The neuromuscular impairment produced fetal hypokinesia, pharyngoesophageal dyskinesia and cardiopulmonary distress. The latter characteristic, further complicated by bronchopneumonia non‐responsive to therapy, seems to have led to the infants' early deaths (between 2 and 4 months of age). Another feature was the presence of umbilical herniae. The pedigree data were consistent with an autosomal recessive pattern of inheritance. This disease does not seem to have been described previously.
Focal dermal hypoplasia
Authors: Ruiz‐Maldonado Ramón , Carnevale Alessandra , Tamayo Lourdes , Montiel Elena Milonas de
Published: July 2010

Focal dermal hypoplasia in five sisters and their mother is presented. The lesions present in this family and in eight additional Mexican cases are reviewed. Fourteen out of 15 cases were females and two were males. All cases had cutaneous lesions, clinically typical of focal dermal hypoplasia; these were confirmed histologically. Osseous changes and syndactyly were the more frequently associated lesions. The resemblance of this syndrome to incontinentia pigmenti and to aplasia cutis congenita is stressed. The study of this family, together with five families reported in the literature, suggests X‐linked dominant inheritance with lethality in males. The known male cases could represent occasional survival or genetic heterogeneity.
Combination of hereditary elliptocytosis and hereditary spherocytosis
Authors: Aksoy Muzaffer , Erdem Sakir , Dincol Güncag , Erdogan Gülten , Cilingiroglu Kaya , Dincol Koray
Published: July 2010

A girl with the combination of hereditary spherocytosis and hereditary elliptocytosis is presented. She had a moderately severe haemolytic anaemia. This was the result either of a summation of the clinical effects of the involved genes or of the mutual enhancement of any of genes involved in the two conditions.
A syndrome of polydactyly‐syndactyly and triphalangeal thumbs in three generations
Authors: Yujnovsky Osvaldo , Ayala Dante , Vincitorio Angel , Viale Hercules , Sakati Nadia , Nyhan William L.
Published: July 2010

A syndrome has been observed in four individuals in three generations in which there is polydactyly and syndactyly of the hands and feet and triphalangeal thumbs. The syndrome is characterized by an unusual malformation of the lower extremities, in which there is hypoplasia of the tibia and a large, curved fibula dislocated on the femur. The pattern of inheritance is consistent with the action of an autosomal dominant gene.
Mental retardation associated with an unusual amino acid excretion pattern
Authors: Daniel William L. , Tosi Terry
Published: July 2010

A patient presenting with progressive mental and physical deterioration, convulsions and hypotonia was found to have increased urinary alanine and glycine. Arylsulfatase A activities in brain, liver, and kidney were one‐half to one‐fourth normal. Both acid phosphatase and beta‐glucuronidase activities were increased. Cholesterol sulfate and two unidentified lipids were present in elevated quantities in brain, liver, and kidney. Froth parents and the patient's only sibling were clinically normal and exhibited normal urinary amino acid excretion profiles. Glycine loading was unsuccessful in eliciting abnormal responses in the parents' excretion patterns. Both parents had normal levels of leukocyte beta‐glucuronidase and arylsulfatase A.
C3 polymorphism: Genetic linkage relations
Authors: Jr T. Gedde‐Dahl , Teisberg P. , Thorsby E.
Published: July 2010

Twenty‐one linkage relations of the C3 locus have been analyzed in Norwegian family material by means of the computer program MOSM. No suggestion of linkage was found. Excluding linkage intervals for which our data have reduced the probability of linkage by more than 95 %, it appears that in males, PGM1, Rh and ACP1 are not linked to C3 closer than TH –.40; Fy and HL‐A not closer than. 35; ABO and Hp not closer than. 30; Gm not closer than. 25; MNSs and K not closer than. 20; PGM3 and Inv not closer than. 15; Do, Gc and Tf not closer than. 10; and Pi not closer than. 05. In females, PTC is not closer to C3 than. 20; Le(Se) not closer than. 15; Jk and P not closer than. 10; and Lu not closer than. 02. Low exclusion levels reflect low information except for C3‐Gc. But if the trend found for this relation should reflect a loose linkage, a very large amount of information would be necessary to establish it.
Detection of inborn errors of metabolism
Authors: Hill Helene Z. , Goodman Stephen I.
Published: July 2010

Human fibroblasts, cultured on glass microscope slides, were examined autoradiographically for their ability to incorporate radioactivity from Na‐propionate‐l‐ 14C into TCA‐insoluble cell material. Cells from patients with propionic acidemia (PA) and methylmalonic acidemia (MMA), both B12‐sensitive and B12‐insensitive, incorporate little or no radioactivity and thus can be readily distinguished from cells of a number of individuals with no defects in this pathway. Incorporation in cells from non‐MMA individuals is significantly enhanced in a basal medium by high levels of glucose. This procedure should be readily adaptable for use in screening for disorders of propionate metabolism, particularly before birth.
Detection of inborn errors of metabolism
Authors: Hill Helene Z. , Goodman Stephen I.
Published: July 2010

The autoradiographic method utilized to distinguish between fibroblasts cultured from normal individuals and those from patients with inherited biochemical blocks in the galactose pathway and in the propionic acid pathway has been adapted for use in the detection of citrullinemia and argininosuccinic aciduria. The usefullnes of such tests in screening for inherited biochemical defects is discussed.
Hepatic fibrosis, polycystic kidney, colobomata and encephalopathy in siblings
Authors: Hunter Alasdair G. W. , Rothman Stanley J. , Hwang Wei Sek , Deckelbaum Richard J.
Published: July 2010

A new syndrome is described in a brother and a sister who show a similar range of minor dysmorphic features (frontal bossing, high palate, anteverted flares, hypertelorism, carp mouth), colobomata, and a diffuse encephalopathy in association with congenital hepatic fibrosis and childhood polycystic kidney disease. The relationship of the major features to each other is discussed and a differential diagnosis is outlined.
Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease
Authors: Skre H.
Published: July 2010

The prevalence of Charcot‐Marie‐Tooth's disease (CMT) was studied in Western Norway, an area with several isolated districts with a population of 725,000 (1968). Three hereditary types were distinguished in the area: autosomal dominant CMT with an estimated prevalence of 36/100,000; X‐linked recessive CMT with a prevalence of 3.6/100,000; and autosomal recessive CMT with a prevalence of 1.4/100,00. Gene frequencies were 3 · 7. 10‐4, 1 · 9. 10‐4, and 4 · 8. 10‐4 in autosomal dominant, X‐linked, and autosomal recessive CMT, respectively, while the corresponding mutation rates were 13 · 0, 5 · 5, and 3 · 5 per million gametes per generation. The penetrance was almost complete for all three variants of CMT.

Strict diagnostic criteria were followed in the selection of the 37 index cases. A family investigation was carried out with 238 subjects, during which 69 secondary cases were detected. Another 57 subjects had unspecific neuropathy (Un), which did not fit a diagnosis of CMT or other neurological disease. In the diagnosis of Un, a score system was used, with age and sex corrections based on findings in a normal population.

Generally, the most severe disease course was found in the recessive CMT types, but there was also more clinical variation, suggesting CNS involvement in some cases (upper motor neuron affection, cerebellar signs). Scoliosis and spinal ataxia were not infrequent, even in cases with autosomal dominant CMT.

The prevalence cf Un was highest in the relatives of recessive CMT cases, with a ratio of affected to normal in sibs compatible with a hypothesis of several cases of heterozygous manifestation. In the relatives of autosomal dominant CMT cases, Un prevalence was also higher than in the population, but lower in 2nd degree relatives than in 1st degree; the ratios fitted a hypothesis of polygenic Un inheritance. Significant differences were found in the score patterns of Un in the recessive CMT families and in the autosomal dominant families, suggesting their difference of origin. The reason for clustering of Un cases in autosomal dominant CMT families is obscure, since it can be only partly attributed to early manifestation of CMT. It is suggested that Un and CMT, mainly in autosomal dominant CMT, interact to form a spectrum of differing phenotypes, so explaining the problem of “transitional forms” between CMT and other hereditary nervous disorders. Recessive CMT, being a more generalized nervous disease, attains, through differing expressivity, phenotypes which vary between individual cases.
The Aarskog syndrome in three brothers
Authors: Funderburk Steve J. , Crandall Barbara F.
Published: July 2010

A sibship is reported of three brothers who all manifested short stature and identical facial, digital, and genital anomalies consistent with Aarskog's syndrome. In addition, all manifested ophthalmoplegia and growth delay of prenatal onset, features uncommon among patients previously reported with this syndrome. The mother had some of the digital anomalies seen in her three boys, but otherwise was unaffected. The pattern of inheritance seen in our family and in those previously reported indicates that the syndrome is either X‐linked recessive or autosomal dominant, with limited expression in the female.
47, XY, t(9p+;11q+) in a male infant with multiple malformations
Authors: Dinno Nuhad D. , Silvey Gary L. , Weisskopf Bernard
Published: July 2010

A case is presented of a male Caucasian child with the genetic constitution 47, XY, t(9p + llq+) without mosaicism. Similarities to the 9p+ syndrome are noted and findings which may be due to additional llq material are discussed. Unusual findings include partial absence of the corpus callosum and enlarged lateral and fourth ventricles.
Electromyography of oral‐facial musculature in craniocarpaltarsal dysplasia (Freeman‐Sheldon syndrome)
Authors: Jr John J. Sauk , Delaney James R. , Reaume Charles , Brandjord Robert , Jr Carl J. Witkop
Published: July 2010

Electromyography and biopsy of the oral‐facial musculature of a patient with craniocarpaltarsal dysplasia (Freeman‐Sheldon syndrome) supports the thesis that facial muscle hypoplasia is a significant component of this evolving syndrome complex.
Hyperglycinuria in a family with autosomal dominantly inherited cataract
Authors: Similä Seppo , Käär Maria‐Lhsa
Published: July 2010

Autosomal dominantly inherited cataract was detected in 20 out of 36 members of a kindred. Three members with cataract and three without cataract also had renal hyperglycinuria. The coincidence, although probably fortuitous, may call for measurements of renal clearance of glycine in cases with inherited cataract.
Concordance rates for myopia in twins
Authors: Karlsson Jon L.
Published: July 2010

A study of seven pairs of monozygotic twins, identified by at least one member of each set wearing concave lenses, shows all to be concordant for near‐sightedness. A survey of the world literature reveals a total of 106 monozygotic twin pairs with myopia, 100 of them reported to be concordant for the disorder. In contrast, 41 dizygotic pairs with myopia are identified, and of these only 12 are concordant. The results of the present study are consistent with a genetic mode of transmission.
Hypophosphatasia: screening and family investigation
Authors: Rubecz I. , Méhes K. , Kluiber L. , Bozzay L. , Weisenbach J. , Fenyvesi J.
Published: July 2010

An 18‐month‐old patient with juvenile hypophosphatasia and cleidocranial dysostosis is reported. Fifty‐three of the 83 members of the family were examined biochemically, and among these were found four homozygotes and 25 heterozygotes for hypophosphatasia. No additional cases of cleidocranial dysostosis were found either in the family or in a screening study.
De novo translocation Down's syndrome: Risk of recurrence of Down's syndrome
Authors: Gardner R. J. M. , Veale A. M. O.
Published: July 2010

Seventy‐six cases of de novo translocation Down's syndrome had 101 siblings, none with Down's syndrome. The risk to the parents of a de novo translocation Down's syndrome child of subsequently having another child with Down's syndrome is, therefore, taken to be less than 1/101. It is emphasized that this estimate is based on a heterogeneous material. Aspects of the formation of the translocation chromosome are discussed.
Hereditary spastic paraplegia in Western Norway
Authors: Skre H.
Published: July 2010

In Western Norway, two types of hereditary spastic paraplegia (HSP) were found: one type segregating as an autosomal dominant, and the other type behaving as an autosomal recessive trait. Within the last category, an infantile type might be defined, with more marked CNS affection than usual (dementia, epilepsy, cerebellar signs). In two of five families with autosomal recessive HSP, retinitis pigmentosa was found in the affected persons. Muscular atrophy was frequently found in both types of HSP, but was more pronounced in the recessive form. Cerebellar signs and cerebral/mental dysfunction also occurred relatively frequently in recessive cases.

In three kindreds where HSP segregated as a dominant trait, 38 family members were examined. Of these, 23 were affected, four had unspecific neuropathy (Un), and 11 were unaffected. In five families where HSP behaved as a recessive trait, 61 family members were examined. Eleven were affected, 19 had Un, and 31 were unaffected. In the diagnosis of Un, a score system was used recording all types of neurological sign. The scores were corrected for age and sex differences based on findings in a normal population.

Estimated prevalence in the area studied was 12/100,000 for autosomal dominant HSP and 2/100,000 for autosomal recessive HSP. There was a high consanguinity rate in the recessive families, so the prevalence here does not reflect the general gene frequency, which was estimated to be 1 · 2.10‐4 (9.7.10‐5 in dominant HSP). The distribution of Un in HSP families suggested different etiologies. Ratios in the recessive HSP families indicated Un to be a heterozygous manifestation. The prevalence in dominant families fitted the hypothesis that Un occurs here as a polygenic trait. Clinical differences in Un also supported these conclusions.
Prenatal chromosome determination. A study of 219 cases
Authors: Wahlström J. , Bartsch F. K. , Lundberg J.
Published: July 2010

The results of amniocenteses performed in connection with prenatal chromosome determinations in 219 pregnant women are reported with regard to the risks involved in sample‐taking. Two hundred and twelve of the 219 pregnant women were given correct information as to the expected child's chromosome constitution by means of the prenatal analysis. In five cases the chromosome determination was unsuccessful and no new amniocentesis was carried out. In two cases where the amniocentesis was unsuccessful the women did not return for a new attempt to take a sample. Three deviating karyotypes are reported among the 212 successful chromosome determinations: one case of trisomy‐21, one of trisomy‐18 and one case of partial trisomy for chromosome no. 14. Prenatal chromosome determination is a safe and reliable method of investigation which permits the diagnosis of chromosomal deviations of the expected child early enough during the pregnancy to permit a legal abortion to be carried out if desired.
Paternal normal/trisomy 21 mosaicism as an indication for amniocentesis
Authors: Papp Z. , Csécsel K. , Skapinyecz J. , Dolhay B.
Published: July 2010

Normal/trisomy 21 mosaicism was demonstrated in the father of a girl with Down's syndrome. During the next pregnancy, amniocentesis and karyotyping of the fetus were conducted. The fetus proved to be healthy.
A lethal autosomal recessive entero‐colitis of early infancy
Authors: Fried K. , Vure E.
Published: July 2010

A family is presented in which three of four children died with an almost identical syndrome. It started within a week or so of birth and presented as bloody diarrhea with a very swollen abdomen. All died after some weeks: autopsy revealed ulcerative colitis in two and pseudo‐membranous entero‐colitis in the third. The parents were second cousins There may have been a milk intolerance. The disease is apparently due to an autosomal recessive gene.
Pattern of Y‐chromatin fluorescence in an XYY man
Authors: Srivastava Probodh K. , Lucas Fred V.
Published: July 2010

Study of the buccal smear from an XYY individual revealed the Y‐chromatin fluorescence to be single, double, split or a combination of single and split in 16, 53, 12 and 4 per cent of the nuclei, respectively. In 3 per cent of the nuclei, unidentifiable multiple fluorescing bodies were present. Fluorescence size was quantitated by ocular micrometric measurements.
Y‐chromatin fluorescence in human buccal smear
Authors: Srivastava Probodh K. , Miles Judith H. , Lucas Fred V.
Published: July 2010

The buccal smear is an excellent specimen in which to screen interphase nuclei for the fluorescent stained Y‐chromosome. Not only is the specimen easily obtained and processed, but the Y‐chromatin stands out prominently in condensed form. Fluorescence size is quantitated by ocular micrometric measurements.
Motor nerve conduction in 47, XXY and 48, XXYY males, and 47, XXX and 45, X females
Authors: Wright M. O. , Lauder I. J.
Published: July 2010

Measurements were made of the maximum motor nerve conduction in the median and ulnar nerves of the right forearm for the four sex chromosomally abnormal groups 47, XXY and 48, XXYY males, 47, XXX and 45, X females. The results obtained were compared with male and female control groups (a) from the general population and (b) from a subnormality hospital. No significant differences were detected between the corresponding results for 47, XXY males and subnormal males. The results for the 47, XXY males were different from those for normal and subnormal females, except in the case of motor conduction in the median nerve for the subnormal female group. There is a suggestion of marked differences in motor conduction and distal latency in 48, XXYY males when compared to the two male control groups. 47, XXX females showed significant differences in motor conduction and distal latency when compared to normal females, but not when compared to subnormal females. No significant differences were detected between 45, X females and normal females for any of the variables measured.
Reifenstein's syndrome: Investigation of linkage to X‐chromosomal loci
Authors: Bremner William J. , Ott Jurg , Moore Donald J. , Paulsen C. Alvin
Published: July 2010

Xga linkage data on a large family with Reifenstein's syndrome is reported. The pedigree was analyzed directly and the data were combined with that from the other linkage study in the literature to allow a numerical estimate of the likelihood of the recombination fraction, based on all the linkage data available. It was concluded that there is not close linkage between Xga and Reifenstein's syndrome. A suggestion was, however, found of tight linkage between the genes for color blindness and Reifenstein's syndrome, but this result was not definite because of the small amount of data available.
Mosaic tetraploidy in a two‐year‐old female
Authors: Kelly Thaddeus E. , Rary Jack M.
Published: July 2010

A 24‐month‐old female with severe physical and mental retardation is described. Peripheral lymphocytes demonstrated tetraploid/diploid mosaicism. That this does not represent an artifact in vitro was supported by the finding of buccal mucosal cells with two Barr bodies and tetraploid/diploid mosaicism in fibroblasts and bone marrow cells.
Longer Y chromosome in criminals
Authors: Soudek D. , Laraya Parvaneh
Published: July 2010

In 84 male criminals without obvious psychiatric problems, the Y chromosomes were measured and compared with Y chromosomes of 38 staff men of a psychiatric hospital. There were significantly (P < 0.025) more long Y chromosomes in prisoners than in controls. Both the fluorescent and non‐fluorescent segment of Y were involved in the increase.

No case of XYY or Y chromosome with atypical structure was found.
Lp(a) lipoprotein and pre‐β1‐lipoprotein in patients with coronary heart disease
Authors: Berg Kåre , Dahlén Gøsta , Frick M. Heikki
Published: July 2010

Certain properties of the atypical serum lipoprotein, referred to as pre‐β1‐lipoprotein, suggested that it might be identical to the lipoprotein carrying the Lp(a) antigen: Lp(a) lipoprotein. Both lipoprotein phenomena are under genetic control and occur in a certain proportion of healthy people. Pre‐β1‐lipoprotein occurs more frequently in patients with coronary heart disease (CHD) than in the healthy population.

The present study of Finnish CHD patients was undertaken to investigate whether a close relationship could be revealed between pre‐β1‐lipoprotein and Lp(a) lipoprotein, as well as between Lp(a) lipoprotein and CHD. Both expectations were realised, and we conclude that pre‐β1‐lipoprotein is very closely related, if not identical to Lp(a) lipoprotein.

If the present results are confirmed in future studies, serum analysis for Lp(a) lipoprotein/pre‐β1‐lipoprotein may become a useful tool for the identification in early life of members of a subpopulation which is particularly at risk for developing CHD.
The Roberts syndrome
Authors: Freeman Mahlon V. R. , Williams Derek W. , Schimke R. Neil , Temtamy Samia A. , Vachier Eduardo , German James
Published: July 2010

The Roberts syndrome consists of tetraphocomelia, cleft lip/palate, and prominence of the phallus. This paper summarizes the major phenotypic abnormalities of 17 previously reported cases and reports five new cases. The features to be considered in the diagnosis of the Roberts syndrome arc: (1) tetraphocornelia with ectrodactyly and syndactyly, (2) cleft lip/palate with protrusion of the intermaxillary portion of the upper jaw, (3) ocular hypertelorism, (4) prominence of the phallus, (5) cryptorchidism in the male, and (6) intra‐ and extra‐uterine growth retardation. Analysis of pedigrees suggests autosomal recessive inheritance. The morphologic appearance of the metaphasc chromosomes in one case was unusual and unexplained.
Accurate identification of the human Y chromosome
Authors: Sulica L. O. , Borgaonkar D. S. , Shah S. A.
Published: July 2010

Examination by light microscopy of cells of various constitutions with one Y, two Ys, or no Y was made by six experienced cytogeneticists in order to ascertain accuracy in identification of the Y chromosome by morphologic criteria. Results showed that this approach is subject to error, especially if the quality of the spreads is not very good. Refined techniques and/or additional information appear to be essential.
ABO blood groups and Australia antigen
Authors: Arndt‐Hanser A. , Ananthakrishnan R. , Walter H.
Published: July 2010

The distribution of ABO blood in two groups of people with Australia antigen was studied (121 blood donors and 128 patients) and in 3,091 controls was investigated. There was a significant excess of A in comparison with o when the two groups were combined, and when the two groups were tested for (A + B): (AB +O) individually and together, both were found to be statistically significant. The results are discussed.
Genetic and clinical relevance of haemoglobins screening: Results from a survey in a paediatric hospital
Authors: Vidal H. , Hernandez A. , Colombo B.
Published: July 2010

A screening for abnormal haemoglobins was carried out on the patients admitted to a Childrens Hospital during a 16‐month period using a rapid electrophoretic technique, with the purpose of finding the prevalence of HbS carriers. The results of this study show that the Cuban population has a high percentage of heterozygotes for HbS. The importance of such a screening for medical care is discussed.

The frequency of abnormal “rare” haemoglobins found during the course of this survey is also given.
Corneal opacity, microphthalmia, mental retardation, microcephaly and generaIized muscular spasticity associated with hypergIycinemia
Authors: Balci S. , Say B. , Firat T.
Published: July 2010

A 5‐year‐old girl with an oculo‐cerahral syndrome born to consanguineous parents is presented. The patient had glycinuria in addition to the usual findings of cloudy corneas, spastic diplegia and motor and mental retardation encountered in patients with this syndrome. Interestingly, tapetoretinal dystrophy was found in two maternal uncles.
Immunological studies in ataxia‐telangiectasia
Authors: Kiran ÖZden , Yalaz Kalbiye , Taysi Kutay , Say Burhan
Published: July 2010

Immunological and genetic studies were carried out on 31 patients with ataxia‐telangiectasia (19 males and 12 females) from 23 families, their 14 normal siblings and 32 of the parents. Parental consanguinity was discovered in 14 families. Six families had more than one affected sibling. The serum IgM levels of the affected children were higher than in controls, but slightly lower than normal values were obtained in the normal sibs and the parents. There was concordant absence of IgA in all affected siblings in three families and presence of IgA in all affected siblings of three other families, indicating that cellular immunity was concordantly impaired in these families. It is suggested that this condition occurs in at least two forms. In the first form neuro‐oculo‐cutaneous manifestations are found in association with IgA deficiency and impaired skin hypersensitivity, and in the second form these manifestations are found without IgA deficiency but with slightly impaired skin hypersensitkity.
A Meckel‐like syndrome?
Authors: Fried K. , Mundel G. , Reif A. , Bukovsky J.
Published: July 2010

The problem of the major clinical pathological signs required for the diagnosis of the Meckel syndrome is presented. A case showing only one of the three major signs of the syndrome is described. It is concluded that at present some cases showing only one major sign and a combination of minor signs could be interpreted in two alternative ways: 1) That they are cases of the real syndrome with unusually few manifestations. 2) That they are phenocopies or are examples of a Meckel‐like syndrome without an etiological relation to the classical syndrome. Follow‐up of the families and the presence or absence of typical cases of Meckel syndrome among siblings may help in deciding between the above possibilities.
Lack of chromosomal damaging effects by moderate doses of LSD in vivo
Authors: Simmons James Q. , Sparkes Robert S. , Blake Phillip R.
Published: July 2010

Four schizophrenic children were treated with weekly doses of LSD‐25 as part of a study of the effects of this drug on beharior. During the course of the study the karyotypes of each child were examined before, during, and after drug treatment to cvaluate the possibility of chromosome damage. There was no increased chromosomal damage notcd on exposure to LSD either at the time of treatment or up to one year later.
Complex five‐break rearrangement
Authors: Fitzgerald Margaret G.
Published: July 2010

Multiple developmental anomalies in a male infant were associated with morphological abnormalities of a No. 2 and a No. 3 chromosome. Banding studies revealed a complex rearrangement interpreted as a reciprocal translocation and an insertion following five breaks, with no apparent loss of chromosomal material. Karyotype: 46, XY, t (2p‐; 3q+), i (2q+; 3p‐) nomp (not maternally or paternally inherited).
Total finger ridge count and 45, X mosaicism (with and without Y chromosome)
Authors: Kerr Josephine M. , Hsu Lillian Y. F. , Workman Peter , Hirschhorn Kurt
Published: July 2010

We have observed that in patients with 45, X mosaicism without a Y chromosome, the influence of the 45, X cell line on the total finger ridge count (TFRC) may be pronounced enough to produet a markedly elevated count, whereas in patients with 45, X mosaicism with a Y, the TFRC may not be significantly increased. We have reviewed 21 of our cases of 45, X mosaicism (14 cases without Y and 7 cases with Y) in an attempt to test our observation. The TFRC of 14 cases of 45, X mosaicism without Y (mean of 167.3) is very significantly increased (P < 0.001) over 15 normal female controls (mean of 116.2), whereas the TFRC of 7 cases of 45, X mosaicism with Y (mean of 152.0) shows no significant difference (P > 0.05) from the 10 normal control males (mean of 138.4). These results have thus far confirmed our hypothesis. The finding of a high TFRC may also be used as a clinical indication of the existence of a 45, X cell line in a mosaic without a Y chromosome.
Cytogenetic studies in Fanconi's anemia. Description of a case with bone marrow clonal evolution
Authors: Lisker Ruben , Gutiérrez Azyadéh Cobo de
Published: July 2010

The cytogenetic studies of a girl with Fanconi's anemia revealed that chromosome breakage was clearly increased in the peripheral blood lymphocytes, and that in the bone marrow 60 % of the cells had a structural abnormality characterized by a D group chromosome with a larger than normal long arm. It is thought that an in vivo rearrangement had taken place in the past and, through clonal evolution, had increased its frequency. A complete review of the literature regarding direct cytogenetic studies of the bone marrow in Fanconi's anemia was performed and concluded that structural rearrangements are not unusual in this disease.
The neck in the XO and XX/XO mosaic Turner's syndrome
Authors: Felix Annette , Capek Vlastimil , Pashayan Hermine M.
Published: July 2010

An attempt to document both the clinical appearance of the neck and the roentgenographic findings of the cervical vertebrae in 15 cytogenetically diagnosed cases of the Turner syndrome rcvealed the following findings: 11 had webbed necks, 13 patients had short necks, and of those, 10 had a short and webbed neck. Fourteen patients had a low hairline, of those, three had a short neck and a low hairline. Ten patients had a webbed and a short neck with a low hairline.

Twelve patients had hypoplastic cervical vertebrae, of whom eight showed hypoplasia of all the cervical vertebrae and four showed hypoplasia of one or more cervical vertebrae.
Klinefelter's and Down's syndrome in an adolescent with abnormal EEG
Authors: Efinski D. , Duma H. , Apostolovski B. , Sofijanov N. , Ristevski B. , Darkovski S.
Published: July 2010

A case of concurrent Klinefelter's and Down's syndromes in an adolescent boy is presented. Cytogenetic study confirmed double aneuploidy (48, XXY,21+). The patient had epilepsy, a feature uncommon in Down's syndrome, but more frequently seen in Klinefelter's syndrome. The EEG revealed a spike focus. Thus, the genotypic constitution has produced a phenotype with signs of both syndromes expressed.
Probably monozygotic twins with discordance for Goldenhar syndrome
Authors: Papp Z. , Gardó S. , Walawska I.
Published: July 2010

Discordance with respect to the Coldenhar syndrome is reported in twin sisters presumed to be monozygotic on the basis of placentation and blood group studies.

In the development of the embryopathy, environmental factors may have played a significant role.
XY/XYY mosaicism associated with major genital defects
Authors: Yunis Emilio , Cruz Emilia de la , Mendez Mizrahim
Published: July 2010

A 9‐year‐old boy with short stature and abnormal genitalia was found to have an XY/XYY chromosomal constitution. On physical examination, in addition to his short stature he had a shield chest and external genitalia showing a hypospadias with cryptorchidism on the left side. The right testicle was present in the scrotum. His intellectual performance was normal and there wax no history of abnormal behavior. Surgical exploration revealed in the left side a streak gonad with a vas deferens and a fallopian tube. Fluorescencc studies of interphasic nuclei and chromosomes confirmed the XY/XYY karyotype. Two hypotheses are advanced to account for this mosaicism.
Anthropometry in sex chromosome abnormality
Authors: Milne J. S. , Lauder I. J. , Price W. H.
Published: July 2010

Anthropometric data have been collected from 47, XXY men, 47, XYY men and 47, XXX women and compared with those of 46,XY men and 46,XX women in the population and in mental subnormality hospitals. Although the 47, XYY men were taller and heavier than the 46,XY men, the other measurements of body size were similar when allowance was made for the greater height. On the other hand, 47, XXY men when compared with 46, XY men had a greater mean subischid height but showed significantly smaller mean values for sitting height, span‐height ratio, biacromial diameter and androgyny score. Women with an extra X chromosome were taller than mentally subnormal 46, XX women but their height was the same as that of women in the population. Biacromial diameter and androgyny score were, however, smaller in 47, XXX women compared with 46, XX women from the population, but no difference was found comparing these variables in 47, XXX women and mentally subnormal 46,XX women.
Detection of heterozygotes for myotonic dystrophy
Authors: Bundey Sarah
Published: July 2010

In 34 families the effectiveness of various methods (clinical examination, electromyography and slit lamp examination of the lens) for detecting heterozygotes for myotonic dystrophy has been assessed. In those families in which the index patient developed symptoms in infancy or childhood, most heterozygotes were recognised by early adult life. However, in the families of index patients who developed symptoms after the age of 20, the expected 50% incidence of clinically affected heterozygotes among fight degree relatives was not reached before the age of 40. Only in the early onset families may it be assumed that a relative who is clinically unaffected by age 20 years is at small risk of transmitting the disorder.
The antenatal diagnosis of trisomy 18
Authors: Gordon George , Sutherland Grant R. , Bauld Rhona , Bain A. Douglas
Published: July 2010

The antenatal diagnosis of a fetus with trisomy 18 in a 41‐year‐old woman is reported. The pregnanzy was temindtcd and the diagnosis confirmed cytogenetically and morphologically. The pathological findings in the fetus are discussed.
Spontaneous D/G translocation in fibroblasts derived from a patient with trisomy 21 mosaicism
Authors: Kohn Gertrude , Aronson Margaret , Mellman William J.
Published: July 2010

The present report describes the apparently de novo Occurrence of a D/G translocation in a libroblast cell culture initiated from a patient mosaic for trisomy 21.
Congenital metatarsus varus in four generations
Authors: Juberg Richard C. , Touchstone W. Joseph
Published: July 2010

Congenital metatarsus varus is a malformation of the anterior foot which results in inward angulation. Three clinical types of the anomaly have previously been described; this report concerns type one, the most common, which shows adduction of the anterior foot, increased elevation of the longitudinal arch, concavity of the medical border and convexity of the lateral border, and neutral position of the heel. We report a family in which this type occurred in nine members of four generations; five aflected persons had other minor abnormalities of the musculoskeletal system. Earlier studies have shown metatarsus varus to be one of the polygenically determined forms of the club foot anomaly. In this family the defect appears to be due to a single gene, autosomal dominant, with full penetrance, but with variable expressivity.