bluuebunny/crossref_metadata_2025 huggingface dataset:
Male pseudohermaphroditism with 45X/46XYq‐ mosaicism in a pair of monozygotic twins
Authors: Bengtsson B. , Gustavson K.‐H. , Reuterskiöld G. , Santesson B. , ÅHnsén S.
Published: July 2010

Male pseudohermaphroditism with 45, X/46, XYq‐mosaicism in a pair of monozygotic twins is reported. The twins showed ambiguous external genitalia with labial fusion, hypertrophy of the clitoris and a vagina which ended in the distal part of the urethra. A uterus and two Fallopian tubes were also present. One of the twins had two gonads, both with testicular structure. In the other twin a gonad could be shown only on the right side; it had testicular structure. Both twins were reared as girls and the external genitalia were reconstructed in a female direction. They both showed 45, X/46, XYq‐mosaicism with similar proportion of XYq‐cells in cultures from blood, skin and testes. The significance of the mosaicism in the aetiology of the intersex condition is discussed.
Hereditary tyrosinemia in the province of Quebec: Prevalence at birth and geographic distribution
Authors: Bergeron Pierre , Laberge Claude , Grenier André
Published: July 2010

Hereditary tyrosinemia is a severe metabolic disorder of the newborn for which a very low prevalence at birth has been reported throughout the world. During a 2‐year period, the Quebec Network of Genetic Medicine has tested blood tyrosine in 81.6 % of newborns. Twelve babies with hereditary tyrosinemia were detected by biochemical screening and two more cases were identified by pediatricians. Prevalence at birth way 0.8 case per 10,000 live births in the province of Quebec as a whole; the Chicoutimi‐Lac St. Jean region was found to have an exceptional concentration of 14.6 caqes per 10,000 live births and a frequency of carriers of 1 in 14 persons. such an experimental screening program helps define health problems in a population.
Application of a quantitative scoring system in the investigation of some hereditary neurologicaI disorders
Authors: Skre H.
Published: July 2010

A scoring system for neurological signs based on the clinical examination was applied to a randomized population sample of adults and to three kindreds with hereditary neurological disease. To achieve qualitative properties of the system, nine subtests were defined, each constituting major functional units of the status. Age and sex differences in scores were corrected through the use of score prevalence figures in the normal population. Corrected wore distributions within subtests were rcmarkably simmilar, and justified their summation to a sum score.

About 95 % of the population sample had sum scores under 3.5, which was defined as the limit of normality.

In the kindreds examined, an unexpectedly large number of persons had “unspecific neuropathy”, i.e. high sum scores without the full clinical picture of the main disease. Various interpretations of this phenomenon are discussed.
FamiliaI aggregation in bilateral renal agenesis
Authors: Hack M. , Jaffe J. , Blankstein J. , Goodman R. M. , Brish M.
Published: July 2010

Two affected siblings with bilateral renal agenesis are reported. The literature was reviewed and seven families with two affected children each were found. It is suggested that this anomaly may be of genetic etiology and transmitted as an autosomal recessive disorder.
Genetic counseling: an appraisal
Authors: Reynolds Beverly Dev. , Puck Mary H. , Robinson Arthur
Published: July 2010

From personal interviews with former consultands, we have learned much about the effectiveness and impact of our genetic counseling services during the past decade. Counseling has been well received and understood by most recipients. Consultands make rational decisions regarding family planning in post‐counseling years. Factors have been identified which limit the effectiveness of genetic counseling. Former counselees are valuable critics, offering excellent suggestions for improving service, many of which have been incorporated into our current procedures. Continued follow‐up of patients and evaluation of results are necessary concomitants of a successful genetic counseling program.
A woman with multiple congenital anomalies, mental retardation and mosaicism for an unusual translocation chromosome t (6;19)
Authors: Pallister P. D. , Patau K. , Inhorn S. L. , Opitz J. M.
Published: July 2010

A mentally retarded woman with multiple congenital anomalies is described.

Her fibroblasts had a normal female chromosome complement, but in virtually all lymphocytes there were only 45 chromosomes, one no. 6 and one no. 19 having joined with their short arms. The two terminal deletions may have been submicroscopically small. Whether they had caused the clinical anomalies remains an open question.

The translocation chromosome had only the primary constriction of no. 19, although no deletion in the centromere region of no. 6 could be detected even with centric staining. This appears to be the fourth well analyzed case of a large translocation chromosome that Seems to be dicentric with one centromere inactivated.

The point of union of nos. 6 and 19 sometimes showed very unusual features: conspicuous bending of chromatids, a change in their thickness from the thinner no. 19 to the no. 6 component, and (to be described in detail elsewhere) chromatid breakage separating the two components (about once in 730 cells). Conceivably, the original breaks may both have occurred within telomeres.
Incidence of chromosome aberrations in a child psychiatric hospital
Authors: Christensen K. R. , Nielsen J.
Published: July 2010

During a 3‐year period a total of four boys with sex chromosome abnormalities was found among a total of 157 boys admitted to a child psychiatric hospital, giving an incidence of 2.6 % compared with the expected 0.3 % from studies in newborn populations (P (Fisher) = 0.0048). The incidence of chromosome abnormalities in the 71 girls admitted to the hospital during the 3‐year period and among all 514 out‐patients was not higher than expected.

The frequency of chromosome variants in a 1‐year incidence study of 240 children was 10.4 % compared with 1.7% among 5,049 newborn Danish children (α2= 83.539, P< 0.001).

The two types of marker chromosomes found to a significantly higher extent than in the newborn population were enlarged satellites on a G chromosome and large Y. Our findings indicate that children with these marker chromosomes may have an increased risk of mental disorders.
X/XY mosaicism with short Y
Authors: Berger R. , Relier J. P. , Salmon Ch. , Minkowski A.
Published: July 2010

A case of 45, X/46, XY mosaicism is reported in an infant with ambiguous penitalia. The patient's Y long arm is shorter than the father's one and has no bright fluorescence nor intensively Giemsa‐stained distal part. The paternal Y chromosome is normal but the light fluorescent and the pale Giemsa stained part of the long arm is shorter than the patient's Y. A complex chromosomal rearrangement is then more probable than a simple deletion.
Partial trisomy 13 in a case of Cyclopia with 13/14 translocation
Authors: Singh D. N. , Wiscovitch R. A. , Osborne R. A. , Hennigar G. R.
Published: July 2010

An infant with median facio‐cerebral dysplasia and a nose‐like tubular appendage (Cyclopia) is reported. Cytogenetic study of this case reveals a partial trisomy of chromosome 13 via the long arms of 13/14 translocation chromosome. This particular arrangement of the partial trisomy is clearly identified by the new quinacrine fluorescence and trypsin banding techniques. Cytogenetic analysis of the parents revealed normal chromosomal complements.
The genetic entity of hypochondroplasia
Authors: Frydman M. , Hertz M. , Goodman R. M.
Published: July 2010

Two families with a total of three affected individuals are presented with the genetic disorder of hypochondroplasia. This skeletal defect is discussed from clinical, radiographic and genetic viewpoints. Because of its many similarities to achondroplasia the distinguishing features of each of these diseases are emphasized. It is of extreme importance to be able to differentiate between these two disorders as early as possible since their prognoses differ.
Muscle histology in fetuses at risk for Duchenne muscular dystrophy
Authors: Toop James , Emery Alan E. H.
Published: July 2010

Quadriceps muscle samples taken from four therapeutically aborted male fetuses (16 to 21 weeks gestation) at risk of developing Duchenne muscular dystrophy have been examined histologically. Two of the four samples were indistinguishable from normal fetal muscle of comparable gestation. A slight increase in variability of fibre size and in mean fibre diameter was found in the third fetus. The fourth fetus, of 16 weeks gestation, showed a marked increase in variability of fibre size and in mean fibre diameter. There was also a significant number of hyaline fibres present. These changes are so similar to those reported in early pre‐clinical Duchenne muscular dystrophy, that it is suggested they represent the earliest histological signs of the disorder which is already manifest in utero.
Idiopathic haemochromatosis: An autosomal recessive disease
Authors: Saddi R. , Feingold J.
Published: July 2010

A genetic analysis of 96 pedigrees has confirmed our previously published report and demonstrated an autosomal recessive mode of inheritance for idiopathic haemochromatosis.

Three generations have been analyzed in each family: the sibship of the patient; the parents of the patient; the offspring of the patient. All the data are consistent with a recessive autosomal transmission: (1) An increased rate of consanguineous matings was found among the parents of the patients. (2) Not a single patient having the disease (latent or manifat) was found among either the parents or the children of the probands. (3) Three distinct levels of iron stores ‐ normal, slightly increased and heavily overloaded ‐ have been statistically separated in the haemochroma‐totic families. (4) The result of a segregation analysis has shown a percentage of parsom with heavy iron overloads per sibship corresponding to that expected for a recessive autosomal transmission, taking into account a penetrance of 0.20 in the female (the estimate used in this study).
Idiopathic haemochromatosis and diabetes mellitus
Authors: Saddi R. , Feinoold J.
Published: July 2010

The separate influences of familial factors and of iron overload on the occurrence of diabetes in idiopathic haemochromatosis (I.H.) have been re‐examined by means of a genetical analysis.

The prevalence of overt diabetes was measured in the parents of 96 patients suffering from I.H., either associated (H.D.) or not (H.D.) with diabets mellitus (D). Twelve out of 132 parents of H.D. patients had diabetes without iron overload, a percentage similar to that reported for the parents of patients with maturity onset diabetcs without haemochromatosis. For (H.D.) patients the prevalence of parental diabetes was nil and very close to that encountered for the same age group in the general population. The difference between the prevalence rates in the two groups was significant (P < 0.05).

The magnitude of the iron was found to be similar in the two groups. The age at diagnosis did not differ. This suggests that iron overload (i.o.) is not the only causal factor in diabetes occurring in I.H.

It was therefore concluded that diabetes mellitus in haemochromatotic patients is genetically determined per se, and that iron overload, through siderosclerotic damage of the pancreas, permits the recognition of an underlying “susceptibility” to diabetes.

Further, the suggestion of an incidence of diabetm, in parents of H.D. versus H.D., higher than could be predicted from the multifactorial transmission theory for diabetes mellitus itself, led to the hypothesis that the mutated “h” gene, responsible for the iron overload characterising I.H. in hmozygotes, contributes in the heterozygwus state to the expression of diabetes.
The relation of the sex of choreic and rigid subjects to the age at onset of Huntington's disease
Authors: Brackenridge C. J. , Chamberlin M.
Published: July 2010

In a series of non‐adult cases of Huntington's disease largely ascertained from the literature, the male sex‐ratio increased linearly with onset age from 0.5 in the 0–5 years age‐group to 1.15 in the 16–20 years age‐group. When cases were separated according to the presence or absence of muscular rigidity, the same effect was observed among rigid subjects; the mean onset age for males significantly exceeded that for females.

In the absence of rigidity, typically choreic cases showed a different type of sex variation with age of onset. The crescent‐shaped curve found was accentuated in those who inherited the disorder from their fathers so that females exceeded males over most of the reproductive period. The converse tended to apply to cases of maternal descent. A later onset age of maternal than paternal cases was found to be associated with this parental difference. It was speculated that hormonal factors may play a part in determining the sex differences observed.
Case report of an extra, small, acrocentric chromosome in a non‐mongoloid girl
Authors: Kaijser Kurt
Published: July 2010

The case described here is a non‐mongoloid girl, with an extra, small, acrocentric chromosome. She shows some of the clinical features previously described in non‐mongoloid children with a similar chromosomal karyotype, including severe mental retardation, large, low‐set ears, and long, slender fingers. Attempts have been made to identify this chromosome by QM fluorescence analysis, but no conclusive answer has been reached. Investigation of the parents' chromosomes was not possible due to their refusal to cooperate.
Patient with Down's syndrome and male pseudohermaphroditism with a 47, XY, +21/46, X, +21 karyotype
Authors: Mello R. Santos , Souza O. A. , Santos Mello E. M. K. Sz , Pimentel E. C.
Published: July 2010

The present report describes a child with Down's syndrome and male pseudohermaphroditism in whom we found a 47, XY,+21/46, X,+21 mosaic chromosome complement. Necropsy revealed both Mullerian and Wolffian structures and bilateral testes.
An infant with an XXXYY karyotype
Authors: Van der Bilt F. A. Lecluse‐ , Hagemeijer A. , Smit E. M. E. , Visser H. K. A. , Vaandrager G. J.
Published: July 2010

An infant with mild retardation of psychomotor development and ambiguous genitalia was found to have a 49, XXXYY karyotype. The identity of the chromosomes was established by different banding methods, both fluorescent and non‐fluorescent. An attempt was made to find the origin of the extra X chromosomes by testing the Xg blood group in the whole family. An evaluation of the clinical features exhibited by male patients with different sex chromosome configurations is given in relation to the excess of X and Y chromosomes.
The manifesting carrier in Duchenne muscular dystrophy
Authors: Moser H. , Emery A. E. H.
Published: July 2010

Twenty‐two female carriers of Duchenne muscular dystrophy (DMD) presenting with myopathic symptoms have been examined. Eleven were definite carriers, aged 29 to 79 years, and 11 were possible carriers, aged 4 to 57 years. There was considerable variation in the clinical manifestations and the course of the myopathy, which in many cases resembled the autosomal recessive limb girdle type of muscular dystrophy (LGMD). Serum levels of creatine kinase were significantly greater in manifesting carriers than in non‐manifesting carriers of DMD and female patients with LGMD. Ten out of the 22 manifesting carriers were familial cases, being either sisters or mother and daughter(s). The frequency of clinical manifestations among female first degree relatives of myopathic DMD carriers is significantly greater than would be expected from the observed prevalence of manifestations among definite carriers (7.8 %). The prevalence of manifesting DMD carriers in the general female population was estimated to be 22.4 × 10‐6, which is comparable to the 19.9 × 10‐6 prevalence for LGMD. The differential diagnosis between the two conditions and the pathogenetic aspects with regard to Lyon's hypothesis and to additional, possibly genetic regulatory mechanisms, are discussed.
Autosomal recessive Cerebro‐Oculo‐Facio‐Skeletal (COFS) syndrome
Authors: Pena S. D. J. , Shokeir M. H. K.
Published: July 2010

Ten patients displaying a uniform Cerebro‐Oculo‐Facio‐Skeletal (COFS) syndrome are presented. The syndrome is characterized by microcephaly, hypotonia, microphthalmia, cataracts, blepharophimosis, large ear pinnae, prominent root of the nose, micrognathia, widely set nipples, camptodactyly, flexure contractures at the elbows and knees, generalized osteoporosis, dysplastic acetabula, coxa valga and vertical talus manifesting as rocker bottom feet. Marked failure to thrive and repeated lower respiratory infections led to death within the first three years of life. Evidence strongly suggestive of autosomal recessive inheritance is presented.
The Cerebro‐Oculo‐Facio‐Skeletal syndrome
Authors: Preus M. , Fraser F. C.
Published: July 2010

A patient with the Cerebro‐Oculo‐Facio‐Skeletal syndrome is described. The phenotype of the syndrome has been extended somewhat and autosomal recessive inheritance further supported by the finding of parental consanguinity.
The MASA syndrome: A new heritable mental retardation syndrome
Authors: Bianchine Josette W. , Lewis Royce C.
Published: July 2010

Two Mexican‐American children of West Texas are described: a brother and sister with a similar pattern of malformation. They have in common a tetrad of Mental retardation, Aphasia, Shuffling gait, and Adducted thumbs. Besides these two sibs, who were available for study, it is known that a total of seven members of this kindred, six males and one female, spanning three generations, have been similarly affected. Although all members of this family come from the same ethnic background, consanguinity has been denied. The mode of inheritance cannot be firmly established at this time. It is in our opinion most compatible with that of an X‐linked recessive gene with phenotypic expression in only one female due to unfavorable Lyonization. Other possibilities exist which cannot be entirely excluded. These include an autosomal dominant mutation with incomplete penetrance in at least three obligatory carrier females. Another possible mechanism is that of an autosomal recessive gene, since all members of this pedigree are of the same Mexican ancestry (Fig. 1. II‐1, III‐3, III‐6). Because all affected members exhibit the four cardinal features of this disorder: Mental retardation, Aphasia, Shuffling gait, and Adducted thumbs, wc wish to refer to this heritable condition as the MASA syndrome until the basic defect is further characterized.
Osteogenesis irnperfecta congenita
Authors: Suen Vitus F. , Harris Vivian , Berman Julian L.
Published: July 2010

A case report is presented of a black mother and her son with osteogenesis imperfecta congenita. It is rare for the congenita form to survive and give birth to a similarly affected baby.
Serum dopamine‐β‐hydroxylase levels in Down's syndrome
Authors: Coleman Mary , Campbell MaCda , Freedman Lewis S. , Roffman Mark , Ebstein Richard P. , Goldstein Menek
Published: July 2010

Serum dopamine‐β‐hydroxylase (DBH) and serum immunoreactive (IR) DBH levels were measured in patients with Down's syndrome. Serum DBH activity was markedly reduced in Down's syndrome patients as compared with age matched, normal controls or non‐mongoloid, disturbed children. Serum IR‐DBH levels were also markedly reduced in Down's syndrome. The possible factors responsible for the observed reduction in serum DBH levels (active and inactive enzyme levels) in Down's syndrome were investigated.
Frequency and segregation of 16qh+
Authors: Nielsen J. , Friedrich U. , Hreidarsson Á. B. , Zeuthen E.
Published: July 2010

The frequency of 16qhk among 2,548 individuals in various psychiatric institutions was 1.2 per 1,000, compared with 1.0 per 1,000 in 6,164 individuals found in the general population.

The enlargement of chromosome No. 16 appeared, in all cases, to be due to enlargement of the heterochromatic secondary constriction area in the long arm of chromosome No. 16.

The observed segregation rate of 16qhf (57 %) did not deviate significantly from that expected. There were no indications of an increase in mortality among the progeny of the 16qh+ carriers, and there was no increased frequency of abortions in carriers. No association was found between 16qh+ and any physical or mental disorders.
Complete failure of eruption of all permanent teeth: An autosomal dominant disorder
Authors: SHOKElR M. H. K.
Published: July 2010

A disorder is described which involves persistent deciduous teeth and complete lack of eruption of the permanent teeth. An anomaly of the jaw bones leading to impaction of all the permanent teeth seems to be responsible for the observed manifestations. A family is presented with three affected individuals plus one other reputedly affected. The distribution of patients in the pedigree is consistent with autosomal dominant inheritance of the disorder reported.
Familial neuromuscular disease with “myotubes“
Authors: Meyers K. R. , Golomb H. M. , Hansen J. L. , McKusick V. A.
Published: July 2010

Van Wijngaarden et al. (1969) described a “myotubular myopathy” in a Dutch family, of which six male members were affected, indicating a recessive X‐linked mode of transmission. They also thought that the morphology of a case reported by Engel et al. (1968) resembled that seen in their family.

The present case is a male sib of the patient reported by Engel and colleagues, who has similar clinical and morphologic features to his brother, and who died at 7 months of age. Muscle enzyme histochemistry of a quadriceps biopsy revealed that most type I fibers were small and had central pale areas or plump nuclei. A smaller percentage of type II fibers also showed the same features. Biopsies of muscle from the mother and father were histologically normal including fiber type composition. Karyotypic analyses, not reported in earlier cases, were performed on the family and showed no abnormalities in modal number or of individual chromosome structure. Pedigree analysis suggests an X‐linked recessive inheritance pattern in this family.
Pedigree analysis to determine the mode of inheritance in a family with retinitis pigmentosa
Authors: Spence M. Anne , Elston R. C. , CedeKbaum S. D.
Published: July 2010

A member of a large family with retinitis pigmentosa sought genetic counselling. Recessive inheritance could be discounted as highly unlikely but observation of the pedigree failed to distinguish between autosomal dominant inheritance with reduced penetrance, and X‐linked recessive inheritance with complete penetrance in some female heterozygotes. The difference in predicted recurrence risk under these two models of inheritance is quite striking. A computerized analysis of the likelihood function for the pedigree was undertaken and reveals the X‐linked model to be more than 1W times as likely as the autosomal dominant model.
X‐linked idiopathic thrombocytopenia
Authors: Moore John R.
Published: July 2010

A family is described in which the incidence of thrombocytopenia suggested transmission by an X‐linked gene. The condition carries a good prognosis. Comparison with previous similar reports suggests that the disorder is phenotypically distinct from the Wiskott‐Aldrich syndrome.
Lysosomal enzyme levels in human amniotic fluid cells in tissue culture: II. α‐galactosidase, β‐galactosidase and α‐arabinosidase
Authors: Sutherland G. R. , Butterworth J. , Broadhead D. M. , Bain A. D.
Published: July 2010

Changes in the activities of α‐galactosidase, β‐galactosidase and a‐arabinosidase in amniotic fluid cells with time in culture were studied. Marked fluctuations in all three enzymes occurred with passage. In certain cell strains, β‐galactosidase showed a marked rise in activity correlated with passage. The activity of all three enzymes, in amniotic fluid cells at the third passage, was correlated with the total time taken to reach con‐fluency. There was no consistent pattern of enzyme activity associated with the time after subculture. Enzyme levels in cell strains derived from serial samples of amniotic fluid from several women showed large differences in activity unrelated to gestational age.
Lysosomal enzyme levels in human amniotic fluid cells in tissue culture: III, β‐glucuronidase, N‐acetyl‐β‐D‐glucosaminidase, α‐mannosidase and acid phosphatase
Authors: Butterworth J. , Sutherland G. K. , Broadhead D. M. , Bain A. D.
Published: July 2010

Fluctuations in the levels of β‐glucuronidase, N‐acetyl‐βp‐D‐glucosaminidase, rr‐mannosi dase and acid phosphatase in amniotic fluid cells with time in culture were studied. The four enzymes fluctuated markedly with passage; no consistent trends were apparent. The activity of a‐mannosidase in amniotic fluid cell strains at the third passage was correlated with the time taken to reach confluency. There was no consistent pattern of enzyme activity associated with the time after subculture. Enzyme levels in cell strains derived from serial samples of amniotic fluid from several women showed large differences in activity unrelated to gestational age. The significance of the findings are discussed in relation to antenatal diagnosis of inborn errors of lysosomal metabolism.
Autosomal recessive inheritance in the mesomelic dwarfism of Campailla and Martinelli
Authors: Beighton Peter
Published: July 2010

Five sisters in a Cape Town kindred had the mesomelic dwarfism of Campailla and Martinelli. The consanguinity of their unaffected parents provides evidence to indicate that this entity is inherited as an autosomal recessive.
An example of rapid prenatal diagnosis of Fabry's disease usingmicrotechniques
Authors: Galjaard H. , Niermeiwr M. F. , Hahnemann N. , Mohr J. , Sørensen S. A.
Published: July 2010

In a pregnancy at risk for Fabry's disease, a prenatal diagnosis could be established 11 days after amniocentesis in the 15th week of pregnancy. This was possible by microchemical analysis of the αgalactosidase activity in isolated groups of 100–200 freeze‐dried, cultured amniotic fluid cells. The results of this microassay were confirmed by (micro)biochemical analysis in cell homogenates from replicate cultures performed in two independent laboratories. Some problems in prenatal diagnosis of heterozygotes are discussed, as well as the possibilities of microchemical techniques for the more rapid prenatal diagnosis of other lysosomal storage diseases.
Hereditary splenomegaly with hypersplenism
Authors: Rao L. M. , Shahidi N. T. , Opitz J. M.
Published: July 2010

We report seven children with a clinically benign form of primary splenomegaly associated with hematologic evidence of hypersplenism. Five belong to one sibship, the other two are second cousins of each other and of the group of siblings. Splenectomy was performed in five subjects, but pedigree evidence of this autosomal dominant trait tends to indicate that complete clinical resolution occurs normally so that transmitting adults show no splenomegaly or hypersplenism. This appears to be a newly recognized Mende‐lian mutation which is evident (“penetrant”) only in childhood, and which may possibly have pleiotropic effects on eye and CNS development.
The XYY Syndrome: Reality or Myth?
Authors: Noël B. , Duport J. P. , Revil D. , Dussuyer I. , Quack B.
Published: July 2010

Seven individuals having a 47, XYY chromosome were correctly distinguished from 28 individuals drawn from the general population by means of a double blind psychological evaluation (including TAT and Rorschach). The prevalence of XYY men, unscreened for height, was 1 per 1000, and for those screened for height, was 3.5 per 1000. Greater stature and certain psychological characteristics were found among the XYY group. However, there was no evidence of below‐average intelligence or criminality.
Dermatoglyphics in Down's syndrome IV. Evaluation of the use of dermatoglyphic discriminants after the topological classification of constituent characters
Authors: Oorthuys Anna M. A. , Doesburg Willem H.
Published: July 2010

The dermatoglyphic discriminants proposed by Penrose & Loesch were used for differentiation between samples of 183 patients with Down's syndrome and 125 controls. The discriminant weightings determined for our Dutch individuals did not deviate much from those determined by Penrose & Loesch for individuals in Great Britain. The estimated percentage of misclassification compares well with the same quantity calculated in the original papers. Moreover, since the method compares well with other known scoring methods, it can be used to advantage in cases of unknown or discrepant symptoms in a patient. The disadvantage of the method, for the confirmation of a clinical diagnosis of Down's syndrome, seems to be that it is rather laborious.
Sex ratio among normal sibs of persons with Turner's syndrome
Authors: Garron David C. , Lindsten Jan
Published: July 2010

Several reported samples of persons with Turner's syndrome are combined, and the sex ratio among their normal sibs calculated. There is a tendency for an excess of males among the sibs of both XO and non‐XO probands, in contrast to an excess of females in a relevant general population and in a selected control sample. This high sex ratio is consistent with the maternal origin of the X chromosomes in the majority of XO probands, and with randomness in the loss of parental sex chromosomes, in the combination of resulting gametes, and in the non‐viability of OY zygotes.
The distributions of seven genetic polymorphisms in patients with Down's syndrome
Authors: Brackenridge C. J. , Pitt D. B. , Sheehy A. J.
Published: July 2010

The distributions of serum complement C3, haptoglobin and transferrin and erythrocyte acid phosphatase, adenylate kinase, 6‐phosphogluconate dehydrogenase and phosphoglucomutase 1 polymorphisms were determined in 171 persons with Down's syndrome and in a control group of 200 normal, healthy persons. In Down's syndrome, unusual phenotypic proportions were observed in the haptoglobin and acid phosphatase systems, while deviations from Hardy‐Weinberg equilibrium were found in the complement C3, acid phosphatase and phosphoglucomutase 1 polymorphisms. The proportion of persons with Down's syndrome of acid phosphatase type A declined linearly with age.
Trisomy 18 mosaicism in two siblings
Authors: Shih Ling‐yu , Ldsu Lillian Y. F. , Sujansky Eva , Kushnick Theodore
Published: July 2010

Two siblings are presented displaying low Girth weight, marked microcephaly, severe mental and growth retardation, and convulsive disorder. Leukocyte and fibroblast cultures showed two cell lines, 46/47,+18, The extra E group chromosome in 30 to 40% of the cells was identified as No. 18 by Q‐banding and G‐banding techniques.
“Cri du chat” syndrome with maternal insertional translocation
Authors: Berger K. , Touati G. , Derre J. , Ortiz M. A. , Martinetti J.
Published: July 2010

An insertional tramlocation 46, XX, ins (17;5) (q21;p14→pter) is described in the mother of a child with “cri du chat” syndrome, 46, XY,5p‐. The phenotypically normal sister of the propositus is also a carrier of the balanced translocation. The mother's parents have a normal Itaryotype.
Congenital dislocation of the hip joint in Norway V. Evaluation of genetic and environmental factors
Authors: Bjekkreim Ingjald , Van Der Hagen Carl Birger
Published: July 2010

The incidence of congenital dislocation of the hip joint (CDH) in Norway is high. Environmental factors and familial occurrence of CDH have been studied in 1147 probands with neonatal CDH and in 784 probands with late‐diagnosis CDH. The proportion of affected sibs was 6 per cent in neonatal CDH and 8.5 per cent in late‐diagnosis CDH. In 51 families, patients with neonatal CDH had sibs with late‐diagnosis CDH, most of whom had been screened for CDH in the neonatal period. The distribution in families was computable with a polygenic mode of inheritance, and the heritability of CDH was calculated to be 74 per cent.

Breech presentation, the most important environmental factor, was observed in 15.7 per cent of the neonatal and in X.3 per cent of the late‐diagnosis cases. A significant seasonal trend in month of birth was found in late‐diagnosis CDH, with a maximum in early October. A higher percentage of birth rank one was found in CDH, but this was mostly due to an association between birth rank one and breech presentation. Probands with familial occurrence were significantly more often severely affected than those with no affected relatives. When several environmental factors were present in the history of a proband, the disorder tended to be more serious, and a familial occurrence of CDH was less likely. Concomitant anomalies were frequently found in CDH.
Studies on hair roots for carrier detection in hypoxanthine‐guanine phosphoribosyl transferase deficiency
Authors: de Bruyn C. H. M. M. , Oei T. L. , ter Haar B. G. A.
Published: July 2010

In an optimalised radiochemical procedure for simultaneous measurement of hypoxanthine‐guanine phosphoribosyl transferase (HG‐PRT) and adenine phosphoribosyl transferase (A‐PRT) from individual human hair roots, the HG‐PRTIA‐PRT activity ratio was used as an index for heterozygote detection in the Lesch‐Nyhan syndrome. Hair roots of female carriers of HG‐PRT deficiency could be distinguished from those of normal and mutant individuals. Evidence is presented that temperature at which hair roots are frozen prior to the enzyme assays affects the HG‐PRTIA‐PRT activity ratio The ratio tends to be higher after lower freezing temperatures.
Retinoblastoma and long arm deletion of chromosome 13. Attempts to define the deleted segment
Authors: Orye E. , Delbeke M. J. , Vandenabeele B.
Published: July 2010

A girl with retinoblastoma, mild psychomotor retardation, bifid uvula and clinodactyly of the fifth fingers is described. A chromosome analysis revealed a long arm deletion of a D chromosome. An autoradiographic analysis, as well as G‐ and Q‐banding analyses indicated a 13q‐ chromosome. Measurements of length, surface and relative reflection of the different light and dark bands in the normal and abnormal chromosome 13 pointed to an interstitial deIetion, mainly of band q21 (46, XX, de1(13) (pter→q14:: q22→qter) The chromosome findings and the clinical features of the patient are discussed and compared with other reported cases.
The prevalence of diabetes mellitus: A study of children and their relatives in a northern Swedish county
Authors: Holmgren G. , Samuelson G. , Hermansson B.
Published: July 2010

In a northern Swedish county, the prevalence of juvenile diabetes mellitus in the age group 0–15 years was 2.2 per thousand. The approximate number of diabetic children 0–15 years of age in Sweden can be estimated to be about 4,000. A higher prevalence of diabetes was found among the siblings of the diabetic children than among the siblings of a control group: 2.6 per cent compared with 0.28 per cent, respectively. A positive family history of diabetes mellitus was recorded for 30 per cent of the diabetic and 17 per cent of the control children.
The N syndrome, a “new” multiple congenital anomaly‐mental retardation syndrome:Studies of malformation syndromes in man XXVII
Authors: Hess Russell O. , Kaveggia Elisabeth G. , Opitz John M.
Published: July 2010

Two brothers are reported with a previously undescribed multiple congenital anomaly/ mental retardation (MCA/MR) syndrome consisting of characteristic appearance, severe mental and growth retardation with visual impairment and deafness, dolichocephaly, hypotelorism, a “scalloped”, laterally overlapping upper eyelid, large corneas, abnormal auricles, dental dysplasia, generalized skeletal dysplasia (which includes overtubulation of the long bones with the distal long bones being relatively shorter than the proximal long bones), high fingerprint ridge count, cryptorchidism, hypospadias and spasticity. They have an apparently normal karyotype. The older of the two, now 13 years old, is receiving total institutional care. The younger died of lymphosarcoma at the age of 5 8/12 years, and at autopsy was found to have markedly abnormal cerebral cortical cyto‐architecture. These cases are reported as a “provisionally private syndrome”, but with the possibility in mind that further studies may prove the N syndrome to be either an autosomal recessive or an X‐linked recessive trait.
Fluorescent chromosome polymorphisms: frequencies and segregations in a Dutch population
Authors: Geraedts J. P. M. , Pearson P. L.
Published: July 2010

A study of the frequencies and segregation behaviour of fluorescent chromosome polymorphisms within a Dutch population is presented. The polymorphism patterns for chromosomes 1, 3, 4, 9, 13, 14, 15, 16, 21 and 22 were scored from 221 (108 female and 113 male) individuals with normal karyotype. Males and females were both found to carry an average of 4 polymorphic chromosomes per person, and approximately half of these were present in chromosomes No. 3 and 13. There was no significant difference between the frequencies per chromosome for the two sexes, and the data for chromosomes 3, 4, 14, 21 and 22 fitted a Hardy‐Weinberg distribution. However, for chromosomes 13 and 15 an excess of heterozygotes and a lack of homozygotes was observed. Although the segregation behaviour of most chromosomes studied appeared to be mendelian, the segregation of chromosome No. 13 showed a lack of homozygotes without polymorphism. Possible mechanisms accounting for this effect are discussed.
Trisomy 8 in bone marrow cells of patients with polycythemia vera and myelogenous leukemia
Authors: Hsu Lillian Y. F. , Alter Andrea V. , Hirschhorn Kurt
Published: July 2010

In studying the bone marrow chromosomes of patients with polycythemia vera (PCV) and chronic myelogenous leukemia (CML), we have recently identified, by the current banding techniques, two cases of acquired trisomy 8. One was a patient with typical PCV and the other had a diagnosis of atypical CML. An extra No. 8 chromosome was found in approximately 60% of the marrow cells of the patient with PCV and 75% of the marrow cells of the patient with CML. Lymphocyte cultures from both patients revealed a normal chromosomal constitution. To our knowledge, thus far, there have been at least 9 cases of acquired trisomy 8 identified in patients with either PCV or CML and a total of 6 cases of acquired trisomy 9 in various hematological disorders. It is possible that acquired trisomy 8 and 9 are the most commonly involved aneuploidies in various hematological disorders especially CML and PCV. The relationship of acquired trisomy 8 or 9 to blastic crisis is to be determined.
Spino‐cerebellar ataxia in Western Norway
Authors: Skre H.
Published: July 2010

The cerebellar ataxia of Marie (SCA) was investigated in Western Norway, a region with a population of 725,000, and with several isolated communities. Two modes of transmission were found: autosomal dominant SCA segregating in four families, and autosomal recessive SCA segregating in nine families. Within the second category, two distinct clinical types were observed. One exhibited ataxia with additional spinal involvement, including both upper and lower motor neuron affection and sensory disturbances. In some cases there were also ophthalmoplegias, dementia, epilepsy, and Parkinsonian signs. The other type exhibited mostly ataxic signs with little additional spinal involvement, but with dementia, epilepsy, and ophthalmoplegias in some cases, and occasionally hyperkinesia and optic nerve atrophy. The autosomal dominant SCA cases showed a varied spino‐cerebellar symptomatology, but lacked ocular signs and had less mental disturbances than recessive SCA. Additionally, the disease course was more benign in autosomal dominant than in autosomal recessive SCA. The dominant form did not affect life expectancy, whereas autosomal recessive SCA considerably reduced the life span.

In four families displaying autosomal dominant SCA, 32 persons were examined: 11 were affected, 10 had unspecific neuropathy (Un), and 11 were unaffected. In six families with autosomal recessive SCA of the spino‐cerebellar type, 53 persons were examined, of whom 11 were affected, 14 had Un, and 28 were unaffected. In two families (the third has been described elsewhere) with autosomal recessive SCA of the cerebellar type, 57 persons were examined: 12 were affected, 19 had Un, and 26 were unaffected. In the diagnosis of Un, a score system was used to record all types of neurological signs. The scores were corrected for effects of age and sex, based on findings in a normal population.

The estimated prevalence figures in the region investigated were: 3.2/100,000 for autosomal dominant, 1.8/100,000 for spino‐cerebellar autosomal recessive, and 1.2/100,000 for cerebellar autosomal recessive SCA; the gene frequencies were 3.9.10‐5, 2.5.10‐3, and 4.8.10‐4, respectively. The distribution of Un in SCA families indicated different aetiologies. Ratios in the recessive SCA families were compatible with Un sometimes representing a heterozygous SCA manifestation. The prevalence in dominant SCA families fitted with a hypothesis that Un behaved here as a polygenic trait. Clinical Un differences also supported these contentions. Un polygenes are assumed to be important contributors to the inter‐ and intrafamilial variation of phenotypes in autosomal dominant SCA.
Early prenatal diagnosis; A study of biopsy techniques and cell culturing from extraembryonic membranes
Authors: Hahnemann Niels
Published: July 2010

The study concerns the diagnosis of fetal condition early in pregnancy ‐ within the first trimester. An instrument was designed to allow biopsy of the extraembryonic membranes under visual control. The instrument was tested in 95 pregnant women prior to legal termination of pregnancy. In 28 cases, the biopsies were taken in the outpatient clinic and the patients were observed for 8 d before the pregnancy was terminated. Thirty‐eight percent of the biopsies were successful. Causes of failure were puncture or biopsy of the amniotic membrane, and bleeding which obscured vision. Biopsies were nonetheless obtained in all but four cases, and 60% contained chorionic villi. Target biopsy of chorion as chorionic villi is, however, possible, and the optimal time seems to be in the tenth week of pregnancy. Culture of biopsy material and karyotyping was successful in virtually all instances. When fetal tissue was identified in the abortion products, and cultured after subsequent termination (24 instances) karyotype determination confirmed the finding from biopsy culture cells. No maternal complications followed the procedure. The possibility is discussed that the present approach may be developed for clinical use as an alternative to transabdominal amniocentesis in the 15th. week.
Prenatal diagnosis: detailed chromosomal analysis in 500 cases
Authors: Atkins Leonard , Milunsky Aubrey , Shahood Jacqueline M.
Published: July 2010

State School, Waltham; the Departments of Pediatrics and Pathology, Massachusetts

General Hospital and Harvard Medical School, Boston, Massachusetts, U.S.A.

Cytogenetic findings in 500 amniotic fluid cultures are presented. The problems of mosaicism, fragmentation, polyploidy and hypo‐ and hyperdiploidy are discussed. A total of 18 abnormal karyotypes was found.
An XYY baby with Prader syndrome
Authors: Iinuma Kazuso , Tanae Ayako , Tanaka Goro
Published: July 2010

A case of an XYY baby with Prader syndrome is described. Phenotypic sex reversal could be attributed to the well defined defect in androgen excretion from fetal testes, which is inherited as an autosomal recessive trait. Our case is thought to be the first XYY female, in which the causal defect of sex differentiation could be identified apart from the double Y condition.
Taurodontism in X‐chromosome aneuploid syndromes
Authors: Stewart Ray E.
Published: July 2010

Two cases of X‐chromosome aneuploidy (XXY) and (XXXXY) are presented which show an alteration in molar root development known as taurodontism. It appears that the degree of taurodontism may be related to the number of X‐chromosomes present.
The sex‐ratio of children born to parents affected with Huntington's disease
Authors: Brackenridge C. J. , Teltscher Betty
Published: July 2010

To examine a Pennsylvanian report that children born to mothers a decade before or after the onset of Huntington's disease tend to be girls, a study was made of sibships ascertained from the Victorian population. Although a trend was observed in the direction described, no significant result was obtained. When the effect of parental age on the sex‐ratio was tested, the proportion of boys increased linearly with the age of the affected mother. The effect occurred for all children and for those to whom the disease was transmitted. Some possible mechanisms were discussed.
Genetics of obstetrical variables. A study from the collaborative perinatal project*
Authors: Naylor Alfred F. , Warburton Dorothy
Published: July 2010

Several obstetric variables were examined for genetic correlation in data from more than 8200 women (roughly 60 % black and 40 % white) linked into about 3200 family groups by birth or marriage and registered in the Collaborative Perinatal Project. Sister‐in‐law pairs yielded estimates of non‐genetic and spurious correlations which were generally absent or low. Pairs of sisters, mothers and daughters, half sisters, first cousins, and aunts and nieces were compared; such relatives were also compared in certain combinations of three. Familial correlation was present for age at menarche and durations of stages 1 and 3 of labor. None was found for gestation time of livebirths or for stage 2 of labor. A significant sister correlation for diagonal conjugate (size of pelvic inlet) was apparent in the white, but not the black, sample.

No families had two or more occurrences of the infrequent conditions: thrombosis, infertility diagnosis, incompetent cervix, leiomyoma, hyperemesis gravidarum, hydramnios, placenta praevia, or prolapsed cord. Familial correlation was significant for fetal death risk, but not for bleeding during pregnancy, abnormal presentation of the fetus, abruptio placentae, breast abnormalities and hypertension. Familial associations for anemia, postpartum hemorrhage, varicose veins and albuminuria were significant in the black data, but not in the smaller white sample. There was a positive, but non‐significant, association of toxemia in sisters.
Are 1q+ chromosomes harmless?
Authors: Gardner R. J. M. , McCreanor Helen R. , Parslow M. I. , Veale A. M. O.
Published: July 2010

Six index cases with a 1q+ chromosome are described, and the literature is reviewed. It is suggested that 1q+ chromosomes may sometimes be pathogenic, and that one manifestation of this may be a condition closely resembling Patau's and Meckel's syndromes.
Hurler/Scheie genetic compound (mucopolysaccharidosis IH/IS) in Japanese brothers
Authors: Kajii T. , Matsuda I. , Ohsawa T. , Katsunuma H. , Ichida T. , Arashima S.
Published: July 2010

Two brothers, aged 21 and 18 years, respectively, presented with Hurler‐like clinical features and normal intelligence. Both had severe dwarfism, characteristic facies, corneal opacities, hearing defect, cardiac enlargement, umbilical and inguinal hernias, and multiple skeletal changes. Both were found to excrete an excessive amount of mucopolysaccharide, shown to be dermatan sulfate and heparan sulfate in the proportion of 9:1. Metachromatic granules could not be found in the peripheral blood leukocytes of either patient. Cultured skin fibroblasts from the younger brother exhibited α‐L‐iduronidase deficiency. In view of these findings, they were diagnosed as Hurler/Scheie genetic compound heterozygotes. A lamellar corneal graft in the older brother remained clear for 4 years after operation.
Trisomy for the short arm of chromosome No. 10
Authors: Hustinx Th. W. J. , Haar B. G. A. ter , Scheres J. M. J. C. , Rutten F. J.
Published: July 2010

The clinical and cytogenetic data are presented of a child with multiple congenital malformations, including cystic kidneys. A trisomy for at least the larger part of the short arm of chromosome No. 10 in association with a translocation between chromosomes Nos. 10 and 14 was found in peripheral blood lymphocytes and skin fibroblasts. Both the mother and a younger sib were balanced carriers of the translocation.