bluuebunny/crossref_metadata_2025 huggingface dataset:
X‐chromosome polysomy in the female: personal experience and review of the literature
Authors: Fryns J. P. , Kleczkowska A. , Petit P. , Berghe H. van den
Published: July 2010

The mental, physical and sexual development of 15 triple‐, four tetra‐, and one penta‐X patients is described and the most important data on this subject are reviewed.
Autosomal dominant inheritance of conductive deafness due to stapedial anomalies, external ear malformations and congenital facial palsy
Authors: Sellars Sean , Beighton Peter
Published: July 2010

Three siblings of Indian stock had profound bilateral conductive deafness with variable malformations of the external ears, stapedial abnormalities and facial paralysis. Their mother was similarly affected and inheritance of this private syndrome is evidently autosomal dominant. Some improvement of auditory function was obtained by surgical intervention in the middle ear.
Inherited 13/14 translocation and meta‐centric microchromosome associated with trisomy 21: Report of 2 cases
Authors: Leddet‐Chevallier Isabelle , Sparkes Robert S.
Published: July 2010

Inherited chromosome abnormalities were found in two unrelated boys with Down syndrome. One patient showed trisomy 21 and a 13/14 translocation which was also present in his mother and three other family members. The other boy had a bisatellited metacentric microchromosome in addition to trisomy 21. The small marker chromosome was found in three generations in the family. In both cases, the carriers had a normal phenotype. The significance of aneuploidy and the presence of inherited karyotypic changes is discussed.
Monosomy 21 syndrome: Further delineation including clinical, neuropathological, cytogenetic and biochemical studies
Authors: Wisniewski K. , Dambska M. , Jenkins E. C. , Sklower S. , Brown W. T.
Published: July 2010

Only six cases of living newborns with apparently complete monosomy 21 have been reported. All the previous cases with the exception of the present case died between 3 weeks and 20 months. Only one of these cases had a postmortem examination. The subject of this report was previously described at the age of 6 years (Davis et al. 1976). He survived until 11 years old and is the oldest known case of complete monosomy 21. We report here the clinical presentation over 11 years, results of gene dosage studies, cytogenetic analysis, and the neuropathological postmortem examination.
Sister chromatid exchange and lym phocyte proliferation in a Down syndrome mosaic
Authors: Heidemann A. , Schmalenberger B. , Zankl H.
Published: July 2010

The number of SCE was compared in the normal and trisomic cell lines of a trisomy 21 mosaic case. It was found that in the trisomic cells the SCE‐frequency was twice as high as in the normal cells. The mitoses with high numbers of SCE (above 10) were increased 4–5 fold. Differential chromatid staining also allowed us to determine the mitotic cycle of the mitoses. The percentage of mitoses from the fourth or a later mitotic cycle was significantly higher in the trisomic cell line than in the normal one. From this result, it can be concluded that the cell cycle time was distinctly shortened in the cells with trisomy 21.
Δ‐Aminolevulinatedehydrase: synteny with ABO‐AK1‐ORM (and assignment to chromosome 9)
Authors: Eiberg H. , Mohr J. , Nielsen L. Staub
Published: July 2010

A material comprising 846 normal families from the Copenhagen area (fam. no. 604–1505) was tested for δ‐aminolevulinatedehydrogenase. Among the 1697 unrelated individuals (parents), the gene frequencies were 0.9378 for ALADH*1 and 0.0622 for ALADH*2. The distribution of phenotypes and the segregation ratios did not deviate significantly from the expected values. Linkage analysis was carried out for markers on chromosome 9, following up a hint of ALADH‐ORM linkage in part of the material. This was confirmed, and the most likely sequence, as judged from male θ values, was found to be ABO‐AK1 ‐ALADH‐ORM. The θand ž values were as follows; ABO‐AK1 (θ=0.13, ž= 6.27), ABO‐ALADH (θ=0.21, ž= 5.38), ABO‐ORM (θ=0.27, ž=5.06), AK1‐ORM (θ=0.17, ž= 1.63), ALADH‐ORM (θ=0.13, ž= 7.05) and AK1‐ALADH (θ=0.11, ž= 2.45).
HLA and disease: Haplotype sharing in multiplex families
Authors: Suarez B. K. , Rice J. P. , Crouse J. , Reich T.
Published: July 2010

Recently it has been argued that the distribution of shared haplotypes in multiplex sibships for HLA‐associated diseases may be an indicator of the disorder's underlying mode of transmission. Specifically, it has been suggested that the presence of multiple disease susceptibility genes and/or loci may be inferred when an inverse relationship between the amount of haplotype sharing and the number of affected sibs is observed in families where neither parent is affected. This claim is evaluated using extensive computer simulations. It is shown that a variety of haplotype sharing patterns are possible, even for the simplest models, and that for a large segment of the parameter space the actual distribution of shared haplotypes is opposite to that predicted. Accordingly, the inference that more than one locus is involved in the etiology of an HLA‐associated non‐Mendelian disease, if based only on the distribution of shared haplotypes in multiplex sibships, is unjustified.
Translocations in Prader‐WiIIi syndrome
Authors: Charrow Joel , Balkin Nancy , Cohen Maimon M.
Published: July 2010

The Prader‐Willi Syndrome (PWS) has frequently been associated with chromosomal anomalies involving the region 15q11‐q12. The first case of this syndrome associated with a de novo translocation involving chromosomes 11 and 15 is reported. The breakpoints were identified as 11q25 and 15q11 or q12 [45, XX, t(11;15)(q25;q11–12)], resulting in the deletion of 15pter+ 15q11‐q12. Previously reported cases of PWS associated with translocations are reviewed in relation to the “deletion hypothesis.”
Tandem duplication of chromosome 14 (q24+q32) in male newborn with congenital malformations
Authors: š Jovanka Nikoli , Ivanović Ksenija , Kosanović Marija
Published: July 2010

A tandem duplication of 14q24→q32, estimated by G‐ and R‐banding, was found in a male newborn with growth retardation and congenital malformations. His clinical picture is compared with that of three patients from the literature with partial trisomy for a similar segment of 14q due to a parental reciprocal translocation or a de novo translocation.
A new syndrome of short stature, joint limitation and muscle hypertrophy
Authors: Soljak Michael A. , Aftimos Salim , Gluckman Peter D.
Published: July 2010

A further case is presented of a new growth deficiency syndrome first reported by Myre et al. in 1981. The major clinical features are mental retardation, growth deficiency, muscular hypertrophy, joint limitation and abnormal skeletal radiography.
An HLA‐All Assoiciation with the hemochromatosis allele?
Authors: Mignon L. Le , Simon M. , Fauchet R. , Edan G. , Reun M. Le , Brissot P. , Genetet B. , Bourel M.
Published: July 2010

Two hundred and seventy‐four patients with hemochromatosis and 1005 controls were HLA typed, and HLA haplotypes were determined for 163 patients and 123 controls. The increased frequency of antigen A3 and haplotypes A3, B7 and A3, B14 in patients with hemochromatosis was confirmed. After correction for the space taken up by A3, a significant increase in All was found. This increase could not be explained by cross reaction between A3 and All. All showed a phenotype association and a haplotype link with Bw35. The genetic significance of this increased All frequency is discussed.
Replication and inactivation of and isodicentric X: presence of an inactive centromere influences the replication patterns
Authors: Fryns J. P. , Petit P. , Klechzkowska A. , Berghe H. van den
Published: July 2010

An isodicentic X‐chromosome (idic(X)(pterq23::q23pter)) was found in a phenotypically normal 30‐year‐old female with symptoms of premature menopause.

A study of DNA replication reveled that in a proportion of cells there was aasymmetric pattern of replication. The region with the inactive centromere had a tendency to replicate later that the portion with the functioning centromer.
Dominant ano‐rectal malfromatin, nephritis and nerve‐deafness: a possible new entity?
Authors: Lowe J. , Kohn G. , Cohen O. , Mogilner M. , Shiller M.
Published: July 2010

A family is presented in which ano‐rectal malformation and feautures common to Alport Syndrome appear to be present in three generations. The possiblity of a new syndrome bassed on a single gene defect is discussed.
Frontonasal dysplasia, coronal cranisoynostosis, pre‐ and postaxial polydactyly and split nails: a new autosomal dominant mutant with reduced penetrance and varibale expression?
Authors: Kwee M. L. , Lindhout D.
Published: July 2010

A case of fronotonasal dysplasia with coronal synostosis, pre‐ and postaxial polydactyly and longitudinally split nails is descirbed. One relative shows a bifid tumb, and several others have a longitudinally spilit nail and/or mild facial dysmorphy. An autosomal dominat inheritance with widely varibale expression of the mutant gene is suggested.
A new from of residual hexosaminidase activity in infantile Tay Sachs disease fibroblasts
Authors: Hechtman P. , Khoo K. , Isaacs C.
Published: July 2010

Fibrolast cells lines obtained from five patients with the early onset form of Tay Sachs disease (TSD) possess a species of β‐N‐acetylhexosaminidase (Hex) which is more anionic than Hex B but which is stable to heating under conditions which completely inactivate Hex A. This speices, which comprised between 3 and 20% of th total hexosaminidase acitivity in homozygous TSD fibroblasts, appeared to be unstable and upon isoelectric focussing produced a mixture of Hex B (pI=7.2) and an isozayme with a pI of 6.2.

This intermediate form of hexosaminidase was not seen in two normal fibroblast cell lines but was observed following anion exchange chromatography of extracts of fibroblast cell lines obtained from two obligate heterozygotes.

A species of hexosaminidase with the same chromatographic properties, thermostability and isoelectric point as the intermediate form found in fibroblasts with the TSD genotypes can be recovered after anion exchange chromatography of a partially purified preparation of human liver Hex A that had been treated with merthiolate.

We hypothesize that in TSD cells a form of the β subunit which is usually incorporated into Hex A accumulates due to the absence of a subunits. This form of the β subunit is more anionic than the β subunit found in Hex B. In the absence of α subunits these anionic β subunits form tetramers with a pI = 6.2. This form of the enzyme is unstable in the presence of cellular proteases and may be modified to Hexosaminidase B.
A further case of monosomy 10qter
Authors: Evans‐Jones G. , Walker S. , Howard P. J.
Published: July 2010

A child with a terminal deletion of chromosome 10 (q26) is described. A comparison of the phenotypic and cytogenetic features is made in the five reported cases of monosomy 10qter. No phenotypic features are found sufficiently characteristic to delineate a syndrome. Enzymatic activities for PGAMA and GOTl were normal.
Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity
Authors: Norio Reuo , Raitta Christina , Lindahl Elina
Published: July 2010

Six new patients with the Cohen syndrome are reported from Finland and 25 published cases from elsewhere are reviewed. New findings are consanguinity among two pairs of parents, granulocytopenia, and marked ophthalmological changes: decreased visual acuity, hemeralopia, constricted visual fields, chorioretinal dystrophy with bull's‐eye‐like maculae and pigmentary deposits, optic atrophy, and isoelectric electroretinogram. Previously known features of the Cohen syndrome (non‐progressive mental retardation, short stature, microcephaly, peculiar facies, slender hands and feet, floppiness, delayed puberty) are confirmed or revised.

The ophthalmological features merit attention in the previous and future suspected cases of the Cohen syndrome. Autosomal recessive inheritance can be taken for granted.
Causes of variation in birth weight: A study of offspring of twins
Authors: Magnus P.
Published: July 2010

In an effort to explain the causes of variation in birth weight within and between families, birth weights of 13,970 sons and daughters of monozygotic (MZ) and dizygotic (DZ) twins were analysed. The sample included birth weights of halfsibs and cousins related either through females or males, permitting the distinction between maternal and fetal genetic effects. Models of genetic and environmental variances were fitted to mean squares from analysis of variance. The results indicate that more than 50% of the total variation in birth weight is caused by variation in fetal genes, and that less than 20% is caused by variation in maternal genes. The remaining variance (20–30%) could be explained by random environmental effects. No certain effects were found of family‐specific environment or of interactions between fetal and maternal genes.
Grebe chondrodysplasia and brachydactyly in a family
Authors: Kumar D. , Curtis D. , Blank C. E.
Published: July 2010

A family is reported in which various skeletal abnormalities have been segregating over three generations. The Great‐grandfather (II) of the consultand had features consistent with Grebe chondrodysplasia. The other members of the family have brachydactyly, radiologically characterised by short first metacarpals and short middle phalanges of the index and little fingers. The possibility of association of familial brachydactyly and Grebe chondrodysplasia is discussed. An attempt has been made to deal with the genetic counselling problem in this particular family.
46, X, i(Xq)/45, X mosaicism with gonadal dysgenesis associated with 21p‐
Authors: Gaál Magdolna , Tóth A. , Bösze P. , László J.
Published: July 2010

This paper presents a female patient with a clinical picture of gonadal dysgenesis and the chromosome constitution with a monocentric isochromosome of one X and a marker chromosome 21 with deleted short arm. The proband's father and other members of the family suffered from Huntington's chorea and each of them possessed the deleted chromosome 21. Our case supports the idea that minor chromosome aberrations may increase the inclination for the development of unbalanced recombinant offsprings.
Bloom's syndrome XI. Progress report for 1983
Authors: German James , Bloom David , Passarge Eberhard
Published: July 2010

During the 30 years since its description as a clinical entity, Bloom's syndrome has been diagnosed in more than 100 persons. It is believed that most of these have been accessioned to the Bloom's Syndrome Registry, which now includes 103 persons. Of those 103, 80 are alive, with a mean age of 18.2 years. Twenty‐eight malignant neoplasms have been detected, at a mean age of 20.7 years. Periodically, progress reports are being made in this journal of the long‐term surveillance of affected families.
Absent tibiae, triphalangeal thumbs and polydactyly: description of a family and prenatal diagnosis
Authors: Canún S. , Lomelí R. M. , Martínez R. , Carnevale A.
Published: July 2010

A family with absent tibiae, triphalangeal thumbs and polydactyly is described. Bilateral absence of tibiae is the most severe manifestation of this syndrome. The pedigree of this family suggests an autosomal dominant inheritance with variable expression. Prenatal diagnosis was made at 20.5 weeks of pregnancy. Fetal radiographs showed the presence of both tibiae; this finding was confirmed at birth.
A new psychomotor retardation syndrome with peculiar facies and marfan‐oid habitus
Authors: Fragoso R. , Cantú J. M.
Published: July 2010

We studied four sibs, two males and two females, who presented psychomotor retardation, typical flat facies and some features of the Marfan phenotype such as tall stature, long and slim limbs, arm span larger than height, “arachnodactyloid” hands and feet, little subcutaneous fat and muscle hypotonia. It is concluded that the aggregate of morphoneurological anomalies constitute a new syndrome probably inherited in an autosomal recessive fashion.
The NEU‐COFS (cerebro‐oculo‐facio‐skeletal) syndrome: report of a case
Authors: Silengo M. C. , Davi G. , Bianco R. , Biagioli M. , Franceschini P. , Cavallo M. , Bussi G.
Published: July 2010

A newborn female with a phenotype intermediate between the Neu and the COFS syndromes is described.

The hypothesis of the two conditions representing different degrees of severity of the same autosomal recessive mutation in the homozygote state is discussed.
The use of structured scenarios in genetic counselling
Authors: Arnold J. R. , Winsor E. J. T.
Published: July 2010

Nineteen women at risk of bearing a child with either Duchenne muscular dystrophy or a neural tube defect participated in a structured scenario study. Eight scenarios were created to allow the women to “try out” possible reproductive outcomes.

Our findings suggest that the use of scenarios may be helpful in reproductive counselling, particularly for those women who have difficulty discussing emotional issues.
Trisomy 7 and Potter syndrome
Authors: Pflueger Solveig M. V. , Jr Charles I. Scott , Moore Charleen M.
Published: July 2010

A patient with mosaic trisomy 7 and features of Potter syndrome is described. The patient was the product of a 35‐week gestation and survived fourteen hours, demise being attributed to respiratory insufficiency. Autopsy confirmed pulmonary hypoplasia and renal agenesis. Additional findings included malformed, low‐set ears, a flattened nasal bridge, redundant nuchal skin, positional deformation of the extremities, rocker‐bottom feet, and clitorimegaly. Cytogenetic study of peripheral blood and skin fibroblast culture revealed mosaicism for full trisomy 7, the skin showing 12% of the cells to have an extra 7. Comparison with one previously confirmed case of trisomy 7 and two cases of trisomy C suggests a correlation between trisomy 7 and Potter syndrome.
Interstitial deletion of chromosome 1 (q23–25). Report of a case
Authors: Silengo Margherita Cirillo , Davi G. F. , Bianco R. , Biagioli M. , Guala A. , Franceschini P. , Novelli G.
Published: July 2010

We describe a 3‐month‐old female with a de novo interstitial deletion of the long arm of chromosome 1 (1q23–25). Clinical features are failure to thrive, psychomotor retardation, cleft lip and palate, short metacarpals, metatarsals and fingers and a severe congenital heart disease.

The four previously reported patients with the same deletion share with ours the distinctive pattern of anomalies of the face and limbs; therefore, it seems now possible to delineate a proximal 1q deletion syndrome.
Chromosome maps of man and mouse II
Authors: Buckle V. J. , Edwards J. H. , Evans E. P. , Jonasson J. A. , Lyon M. F. , Peters J. , G.Searle A. , Wedd N. S.
Published: July 2010

Chromosome displays and listings are presented showing loci whose position is known in both man and mouse, in similar manner to our previous report (Dalton et al. 1981). There is now evidence for at least 27 conserved autosomal segments with two or more loci in the two species. The human and mouse chromosome maps show the location of homologous genes. The mouse map also shows the positions of translocations used in gene location and of some other genes used in linkage studies on them.
The Nance‐Horan syndrome: a rare X‐linked ocular‐dental trait with expression in heterozygous females
Authors: Bixler David , Higgins Michael , Hartsfield James
Published: July 2010

This report describes two families with the Nance‐Horan syndrome, an X‐linked trait featuring lenticular cataracts and anomalies of tooth shape and number. Previous reports have described blindness in affected males but posterior sutural cataracts with normal vision as the primary ocular expression in heterozygous females. In one of these two families, the affected female is not only blind in one eye but reportedly had supernumerary central incisors (mesiodens) removed. This constitutes the most severe ocular and dental expression of this gene in heterozygous females yet reported.
Aneuploidy in recurrent spontaneous aborters: the tendency to parental nondisjunction
Authors: Hecht Frederick , Hecht Barbara K. , Berger Carol S.
Published: July 2010

To test the hypothesis that parental aneuploidy, particularly involving sex chromosomes, indicates an increased risk of meiotic nondisjunction, we analyzed chromosome numbers from 283 parents who had had 2 or more spontaneous abortions and, if they had children, no abnormal offspring. A sample of 15 lymphocyte metaphases was examined per individual for a total of 4,245 metaphases. Two or more cells with the same abnormal chromosome complement were found in 19 individuals: 4 males with a minor number of 45, X cells and 15 females with minor numbers of 45, X and/or 47, XXX cells (p< 0.001). The most logical explanation is that mitosis may, in part, reflect meiosis. This group of parents appears predisposed to chromosome errors in meiosis leading to recurrent spontaneous abortion.
Agonadism with positive H‐Y antigen
Authors: Kinoshita Kenji , Shiina Yoshio , Bando Masashi , Seino Kazuko , Yamada Kiyomi
Published: July 2010

A 30‐year‐old phenotypic female was investigated because of absence of the vagina. Her serum gonadotropins were elevated while testosterone was in the normal range for females. Stimulation with human chorionic gonadotropin (hCG) gave no response of testosterone. No uterus, Fallopian tubes, Wolffian derivatives, or the gonads were found at laparotomy. Chromosome analysis showed a46, XY karyotype. The expression of the H‐Y antigen was positive. The results suggest that testicular degeneration in agonadism is not caused by a defective H‐Y antigen.
Selection against genetic defects in semen donors
Authors: Smith P. E.
Published: July 2010

Artificial insemination donor selection requires predicting which men are likely to beget the healthiest offspring. Methods are developed for calculating the “offspring excess recurrence risk”, /IR, for an anomaly in the offspring of an afflicted father. Mainly from published family survey and population data AK is computed for 38 disorders. From a small survey a value for the with‐treatment “affliction burden”, B., is assigned to each anomaly. For each disorder the “offspring excess burden expectation” is z!RB,.

Defects such as cataract, hereditary Parkinson disease, psoriasis, seropositive rheumatoid arthritis, and schizophrenia have such a high zIRB, that they are individually sufficient cause for rejecting a donor candidate. A candidate may be rejected because of a combination of lesser defects with E JRB, exceeding an acceptable limit. A limit should also be placed on B., because the affliction burden for Tay‐Sachs disease or cystic fibrosis is intolerable, however infrequent.

Most of the important hereditary defects are late onset, and for the older donor the opportunity to select more directly against late‐onset disorders offsets the added risk of newly‐arising gene mutations.

The most careful donor selection cannot completely eliminate the risk of a child inheriting some disorder, but selection can reduce the average total burden by as much as 17%.
Genetics of site specific colon cancer: a family study
Authors: Bamezai R. , Singh Gurpreet , Khanna N. N. , Singh Shamer
Published: July 2010

In a kindred of 46 individuals of an Indian Sikh family with no history of consanguinity, 8 suffered from site specific colon (caecum) cancer (not associated with polyposis). The clinical features in the affected kindred were indicative of a “cancer family syndrome”. The study of the family depicted an autosomal dominant transmission pattern of site specific colon cancer, with probably 100% penetrance in the affected individuals. A low percentage of mitotic index (MI) was observed in the two probands who were available for the study. No structural or numerical chromosomal aberrations were observed in either case. It is probable that the gene responsible in this family could have begun by mutation at the germ cell level in the 1st generation and remained in a heterozygous condition in the affected individuals.
Prader‐Willi syndrome in Black females
Authors: Golden Wendy L. , Hanchett Jeanne M. , Breslin Nancy , Steele Mark W.
Published: July 2010

Reports of Black females with Prader‐Willi have been rare. This communication describes two Black females with Prader‐Willi syndrome. Chromosome analysis revealed a small deletion of the proximal portion of a chromosome 15 in one case and apparently normal chromosomes in the other.
Controlled comparison of plasma and serum for cystic fibrosis protein
Authors: Wilson G. B. , Mc intosh J. , Dietrich J. , Manning T.
Published: July 2010

Investigators who have previously reported attempts to utilize the isoelectric focusing (IEF) method to detect the cystic fibrosis protein (CFP) in blood samples from CF homozygotes and heterozygotes, and normal healthy controls have restricted their evaluations to serum samples. The requirement of using serum and the stringent conditions laid down for the collection, processing, and storage of serum samples have been impediments, however, to the successful use of the IEF method for CFP detection. We now report results obtained from controlled (“blind”) comparative analyses of matched serum and plasma samples from CF homozygotes and heterozygotes, and normal healthy controls which indicate that the CFP is present in plasma and that heparinized plasma in particular may be a better fluid than serum for use in future studies on the CFP.
Pi phenotypes in patients with ankylosing spondylitis, acute anterior uveitis, psoriasis and chronic prostatitis
Authors: Møller Pål , Fagerhol Magne K.
Published: July 2010

Pi phenotypes were determined in patients hospitalized with ankylosing spondylitis, acute anterior uveitis, psoriasis or chronic prostatitis. The allele frequencies were calculated. No deviation in allele frequencies from Norwegian controls could be demonstrated.
Genital anomaly and cardiomyopathy: a new syndrome
Authors: Najjar Samir S. , Kaloustian Vazken M. Der , Ardati Kassem O.
Published: July 2010

Two brothers, products of a consanguineous marriage, had severe hypoplastic genitalia and cardiomyopathy. These findings are similar to those of three other brothers of another consanguineous family who in addition had evidence of mental retardation. These five boys probably represent a previously undescribed syndrome of genetic origin but of poorly understood pathogenesis.
Duplication in chromosome 15q in a boy with the Prader‐Willi syndrome; further cytogenetic confusion
Authors: France H. F. de , Beemer F. A. , Ippel P. F.
Published: July 2010

We describe a six‐year‐old boy with the typical features of Prader‐Willi syndrome. Cytogenetic investigation revealed a chromosome aberration that has not been described yet, i.e. a duplication in the proximal half of 15q. Based upon banding‐pattern the exact nature of the duplicated part could not be delineated. Both parents had a normal karyotype. Various hypotheses concerning the relationship between Prader‐Willi syndrome and various chromosome 15 abnormalities are discussed.
Parental determinants of birth weight
Authors: Magnus P. , Berg K. , Bjerkedal T. , Nance W. E.
Published: July 2010

As part of a study on causes of variation in birth weight, questionnaire data on parental measures were related to offspring birth weights recorded in the Medical Birth Registry of Norway. A genetic analysis of parent‐offspring covariances in birth weight indicated that about 60% of the variance in birth weight could be explained by effects of fetal genes, while no effects of maternal genes were detectable. Multiple regression analysis showed that height and weight of both parents and maternal smoking status were associated with variation in birth weight. Socioeconomic status, educational attainment and paternal smoking habit had no independent effects. The adult, parental variables could only explain 10% of the variation in mean offspring birth weight.
α‐L‐iduronidase deficiency in mucopolysaccharidosis type I against a radio‐labelled sulfated disaccharide substrate derived from dermatan sulfate
Authors: Muller Vivienne J. , Hopwood John J.
Published: July 2010

α‐L‐Iduronidase activity was assayed by incubation of a radiolabeled disaccharide, 0‐(α‐L‐idopyranosyluronic acid)‐(l → 3)‐2,5 anhydro‐D‐[I,3H]‐talitol 4‐sulfate (IdoA‐anT4S) derived from dermatan sulfate, with homogenates of leucocytes, cultured amniotic cells and skin fibroblasts from normal individuals and patients affected with an α‐L‐iduronidase‐deficiency disorder (mucopolysaccharidosis type I, MPS I), parents of such patients and patients affected with other mucopolysaccharidoses. The assay clearly distinguished affected homozygotes from normal controls, heterozygotes and other mucopolysaccharidosis types. Preliminary results show that fibroblast homogenates from patients with the MPS I Hurler phenotype were virtually unable to hydrolyse IdoA‐anT4S, whereas fibroblast homogenates from a patient with a relatively mild (Scheie) phenotype exhibited a residual activity with Vmax value of 2.5 pmol/min/mg protein and an apparent Km of 21 /anol/1 compared to a range of 1020–2105 pmol/min/mg for Vmax and 12–35 /rniol/1 for Km for fibroblasts from normal controls.
ATPase activity of erythrocyte membrane in patients with trisomy 21 (Down's syndrome)
Authors: Qi‐Ming Xue , Ding‐Guo Shen , Wei Dong
Published: July 2010

ATPase activity of erythrocyte membranes was determined in 25 cases of Down's syndrome verified by cytological and psychological examinations. The age range of the patients was 8–25 years; 16 males and 9 females. Thirty healthy male volunteers were selected as the control group. There was a marked reduction of total ATPase, Na+, K+‐ATPase, Mg ++ ‐ATPase activities and rate of ouabain inhibition in the patients with Down's syndrome. The authors suggest that there might exist transport defects in the red cell membranes in such patients.
Long arm deletions of the X chromosome and their symptoms: a new case (bp q24) and a short review of the literature
Authors: Kaiser P. , Harprecht W. , Steuernagel P. , Daume E.
Published: July 2010

The clinical and cytogenetic data from a 26‐year‐old female with del(X)(q24 → ter) are reported. This breakpoint has not been described yet. Besides this report we give a comparative summary of 24 cases from the literature with different deletions of Xq.
Klinefelter syndrome and two fragile X chromosomes
Authors: Fryns J. P. , Kleczkowska A. , Wolfs I. , Berghe H. VAN DEN
Published: July 2010

Two fragile X chromosomes were found in 20% of the cells in a moderately mentally retarded patient with Klinefelter syndrome.
Non‐progressive psychomotor retardation in a child with severe deficiency of arylsulphatase A activity
Authors: DANESINO C. , 'AZZO ALESSANDRA , ARICA M. , PODESTA A. F. , BELUFFI G. , BIANCHI ELENA
Published: July 2010

Severe deficiency of arylsulphatase A (ARSA) activity was detected in a boy with delayed psychomotor development, coarse face and liver enlargement when he was aged 2. The case does not fit into the description of the Metachromatic leukodystrophy (MLD) proposed by Hagberg (1963) mainly because he did not deteriorate. Twelve years of follow up did not show any signs of decerebration or further intellectual decline; only speech was, and still is, absent.

The reduced ARSA activity in leukocytes and fibroblasts of the father of the propositus suggests that he is heterozygote and that the ARSA deficiency of the propositus is inherited. The ARSA activity of the mother overlaps with the lowest control. The assumption that the mother is a carrier of different mutations could explain the discrepancy between the clinical and biochemical findings of the patient.

This is a further family in which mutations other than the typical one can be postulated to explain variable clinical or biochemical pictures of MLD.
Familial 5p‐ syndrome
Authors: Kushnick Theodore , Rao Kathleen W. , Lamb Allen N.
Published: July 2010

This report concerns a mother and son with a small terminal deletion of the short arm of chromosome 5 (del(5)(qter → pi5.1:). Both mother and son had superficial resemblance to patients with classical Cri‐du‐Chat Syndrome, but lacked the severe mental and growth retardation generally associated with such cases.
A supernumerary microchromosome in amniotic cell cultures and talipes equinovarus in a live born female
Authors: Muneer Razia S. , Himes Jeannie R. , Payne‐Howell René M. , Thompson Lora M. , Rennert Owen M.
Published: July 2010

Amniocentesis for advanced maternal age resulted in the demonstration of a supernumerary microchromosome in the amniotic fluid cells. Cytogenetic analysis of peripheral blood from the female infant revealed a mosaic karyotype 46, XX/47, XX, + marker. The only anomaly noted in the infant was talipes equinovarus.
Epinephrine‐induced platelet aggregation. A twin study**
Authors: Gaxiola Blanca , Friedl Waltraut , Propping Peter
Published: July 2010

A study in healthy adult male twin pairs (17 MZ, 15 DZ) was devised to examine the genetic influence on epinephrine‐induced platelet aggregation. Intraclass correlations of 0.65 for MZ, 0.43 for DZ, and 0.61 for repetitive experiments in the same subjects point to the influence of genetic factors. The antagonizing effect of phentolamine on platelet aggregation did not prove to be under genetic control. There was no significant correlation between epinephrine concentrations which induce half‐maximal aggregation and number of a‐adrenergic receptors as measured by3H‐yohimbine binding. In one MZ twin pair concordantly, and also in two unrelated persons, epinephrine was unable to induce complete platelet aggregation. This phenomenon is not related to the number of a‐adrenergic binding sites on platelets.
Abnormal chromosome in Prader‐Willi syndrome
Authors: Goh Kong‐oo , Herrmann Marie A. , Campbell Robert G. , Thompson Dean
Published: July 2010

A Prader‐Willi Syndrome (PWS) patient was found to have an extra satellite chromosome, smaller than the normal Chromosome 22, in 60% of her metaphases. G‐ and C‐bandings showed that the extra chromosome did not derive from a Chromosome 15 as has been reported in some PWS patients. Because of variation in chromosomal abnormalities in the PWS patients reported, it was concluded that the chromosomal abnormalities found in them may be a secondary phenomenon rather than the cause of PWS.
Alpha‐mannosidosis: analysis of urinary oligosaccharides with high performance liquid chromatography and diagnosis of a case with unusually mild presentation
Authors: Warner Thomas G. , Mock Amy K. , Nyhan William L. , O'Brien John S.
Published: July 2010

Mannose containing oligosaccharides (OS) excreted in the urine of patients with alpha‐mannosidosis have been analyzed with high performance liquid chromatography (HPLC). The HPLC method provides a highly sensitive assay for detection of the urinary oligosaccharides and was employed for diagnosis of a fifteen‐year‐old female with an unusually mild presentation of the disease. Dysostosis multiplex and coarse facies were absent; mental impairment was particularly mild. The elution profile of the urinary OS from this patient and two, more severely affected, patients with mannosidosis were nearly identical, containing nine major OS fractions. The concentrations of the OS were eight fold lower in our patient hut, when calculated relative to creatinine, the levels of the urinary OS of all patients were similar.
Problems of detecting mosaicism in skin. A case of trisomy 8 mosaicism illustrating the advantages of in situ tissue culture
Authors: Procter Susan E. , Watt Jessie L. , Lloyd David J. , Duffty Paul
Published: July 2010

A case of mosaic trisomy 8 is described and the accuracy of flask culture and in situ culture techniques in detecting chromosomal mosaicism in tissues discussed. The advantages of the in situ method are illustrated and the importance of mixed colonies in defining mosaicism highlighted. The implications for prenatal diagnosis of mosaicism are pointed out.
Partial trisomy 11q due to paternal t(11q;18p); further delineation of the clinical picture
Authors: France H. F. de , Beemer F. A. , Senders R. Ch. , Gerards L. J. , Cats B. P.
Published: July 2010

We describe an eleven‐months‐old girl with a partial trisomy 11q due to a paternal t(11;18)(q142;p14131). Clinical symptoms include severe psychomotor retardation, microcephaly, cleft palate, large, beaked nose, micrognathia, short hands and proximally placed thumbs. Moreover, a partial agenesis of the callosal body and a perineal mid‐line malformation are present. The clinical picture of the index case is compared with relevant findings in patients with a partial trisomy (11 q) and partial monosomy (18p) (Aksu 1977).
Fetal mortality in oral cleft families (VII): birth intervals
Authors: Dronamraju Krishna R. , Bixler David
Published: July 2010

Birth intervals in sibships of oral cleft probands are analysed to detect prolonged delays between successive pregnancies. Such intervals are useful indicators of undetected fetal mortality. The present study indicates that the average interval for 462 cleft families in Indiana is 30.61 months. The average interval leading to the birth of a cleft child is 33.94 and is significantly greater than the average interval for the entire sample. Although the contraception status of the Indiana population is not known, the significantly greater delay preceding the birth of a cleft child is indicative of a cause other than contraception. This finding is in agreement with the report by Drillien et al. (1966) that abnormal conceptions occur more frequently adjacent to cleft offspring. It is interesting that some increase in the average interval is also noted in the present study immediately following the birth of a cleft child. Such delays occurring both preceding and following the birth of a cleft child (in contrast to smaller intervals for other pregnancies in the same sibships) may indicate excessive fetal wastage due to a combination of genetic and environmental factors.
Arteriohepatic dysplasia: phenotypic features and family studies
Authors: Mueller R. F. , Pagon R. A. , Pepin M. G. , Haas J. E. , Kawabori I. , Stevenson J. G. , Stephan M. J. , Blumhagen J. D. , Christie D. L.
Published: July 2010

Arteriohepatic dysplasia (AHD) is a disorder characterized by intrahepatic cholestasis and peripheral pulmonary artery stenosis. We have reviewed the phenotypic features in the 56 previously reported cases and 7 persons from our institutions with AHD to summarize the type of cardiac, hepatic, facial, ocular and skeletal manifestations observed in this disorder. Family studies evaluating first‐degree relatives of patients with AHD are compatible with an autosomal dominant mode of inheritance with reduced penetrance and variable expressivity.
Dermatoglyphic features in Prader‐Willi syndrome with respect to chromosomal findings
Authors: Reed Terry , Butler Merlin G.
Published: July 2010

Dermatoglyphic findings were compared in 38 Prader‐Willi syndrome (PWS) patients and 270 normal controls. Twenty‐one of the PWS patients had an interstitial deletion of the proximal long arm of chromosome 15 and seventeen PWS cases had normal chromosomes. Findings in PWS are not diagnostic but do show some consistent deviations that can be used in the clinical evaluation of PWS patients. These include a displacement of the axial triradius away from the normal proximal position, an excess of whorls primarily on the thumbs, radial termination of the palmar A mainline, and lack of arches on the big toe. Deletion PWS patients were much more homogeneous than non‐deletion cases with respect to plantar patterns. The previously reported deficit of plantar pattern intensity was restricted only to deletion PWS and was characterized by a lack of plantar interdigital II‐IV patterns with almost exclusively hallucal distal loops.
Deletion of the long arm of chromosome 11 [46, XX, deI(11)(q24.1 → qter)]
Authors: O'Hare Anne E. , Grace Elizabeth , Edmunds A. T.
Published: July 2010

A child who presented at three months of age with pyloric stenosis and pancytopenia was found to have a partial deletion of the long arm of chromosome 11, del(11)(q24.1→qter). Only two previous cases have been described with an apparently identical chromosomal deletion, and both exhibit similar phenotypic features. Other patients with larger deletions of the distal region of the long arm of chromosome 11 show many features in common with these three cases. It is suggested that the region of the long arm of chromosome 11 from band q24.1 to qter may contain the genetic material responsible for the expression of the 11q— phenotype.
Clinical consequences of heterozygosity for autosomal‐recessive diseases*,**
Authors: Vogel F.
Published: July 2010

Heterozygotes of autosomal‐recessive diseases can often be recognized by special heterozygote tests, since enzyme activities are normally reduced in comparison with the normal homozygote state. In Drosophila, the majority of recessive lethal mutations shows a reduction of fitness in heterozygotes, whereas in a strong minority fitness of heterozygotes is increased. This review will be devoted to a consideration of the extent to which heterozygotes for a wide variety of nominally recessive diseases are subject either to an increased liability for common diseases or slight shifts of behavioral characteristics. The available evidence has been collected and will be discussed in three steps:

1. Most studies are available for phenylketonuria. For this group of diseases, a slight reduction of average ‐ especially verbal ‐ I.Q. in heterozygotes has been reported together with signs of a slightly increased cerebral irritability, a possible slight increase of risk for mental disease, and an increase of blood phenylalanine levels in stress situations. The PKU example is used to discuss methodological problems involved in such studies.

2. Other conditions for which relevant deviations in heterozygotes are possible or even likely include among others lipid storage diseases, microcephaly, myoclonus epilepsy, Wilson's disease, galaktokinase deficiency, homocystinuria, recessive myotonia and ataxia‐teleangiectasia (increased cancer risk).

3. Since heterozygotes for autosomal recessive diseases are common, it is possible that an appreciable fraction of “multifactorial” genetic liabilities for common, “constitutional” or mental disease might simply be due to heterozygosity for genes whose homozygous affects are already well known. By the same token, much of the “normal” genetic variability influencing cognitive performance (I.Q.) ‐ especially in the lower range ‐ and personality characteristics could also be caused by recessive genes in the heterozygous state.
Chromosome fragility in Alzheimer's disease
Authors: Smith Arabella , Broe G. A. , Williamson Michael
Published: July 2010

We present cytogenetic findings for 12 patients with Alzheimer's Disease (AD) mean age 75.8 ± 6.01 years and 35 normal age and sex matched controls (mean age 74.8 ± 4.04 years). The study, undertaken due to reports of increased fragments and chromosome breakage in individuals with AD, was performed blind on coded peripheral blood specimens and the allocation of AD or control was not known to the cytogenetic staff until the end of the study. Both the AD group and the controls have been very carefully selected and both underwent the same clinical assessment and screening procedures which included CT scanning.

Chromosomes were analysed after 72 h cultures, using deprived medium TC199 which is known to enhance the appearance of fragile sites. A minimum of 50 cells was examined in each case and any rearrangement found was classified as ctg, csg, ctb, csb and the chromosome in which it occurred was recorded. Analysis of results showed that there was no statistically significant difference between the AD group and the controls for either the total occurrence of breaks, the type of aberration or the chromosome(s) involved. In both groups the commonest break was in 3p.
The development of four unselected 47,XYY boys
Authors: Bender Bruce G. , Puck Mary H. , Salbenblatt James A. , Robinson Arthur
Published: July 2010

Four infants identified through neonatal screening programs are an unselected sample of 47,XYY boys. No consistent physical stigmata or medical disorders were identified. Three have increased height. All four demonstrated problems in motor and language development. Although their intelligence is within the average range, all four have language‐related learning disorders requiring special education. Mild depression was apparent in all four, perhaps as a secondary result of their learning disorders. Some of the problems seen in the propositi are found in milder forms in other family members, leading to the hypothesis that their karyotype may heighten vulnerability to pre‐existing familial conditions. Similarities between these findings and results from seven other study centers with a total of 42 47,XYY boys are noted. Parents of a prenatally diagnosed 47,XYY fetus seen in our center are informed that the extra Y chromosome represents a risk factor for these problems, but that environment remains a primary force in shaping their child's development.
Myotonic dystrophy and autosomal balanced translocation t(2; 20) (p21; q11)
Authors: Fryns J. P. , Kleczkowska A. , Bulcke I. , van den Berghe H.
Published: July 2010

The present paper reports the concurrence of Myotonic Dystrophy and an autosomal balanced translocation t(2;20)(p21;qll), both occurring de novo in a 21–year‐old female.
Abnormal B.A.E.P. in a family with Moebius syndrome: evidence for supranuclear lesion
Authors: Stabile M. , Cavaliere M. L. , Scarano G. , Fels A. , Valianl R. , Ventruto V.
Published: July 2010

A family with Moebius syndrome is presented. Neurological lesions in the affected members are various: complete VI and VII cranial nerves palsy associated with mental retardation in the proband; left convergent strabismus and mental retardation in a brother of the proband and only mental retardation in a sister of the proband. The brainstem auditory evoked potentials (B. A.E.P.), investigated in the proband and his affected sister, are abnormal. The presence of the anomaly after the 3rd wave is consistent with a disfunction of the auditory tract at a supranuclear level. The mental deficiency and the supranuclear site of the acoustic lesion are an indication for a more general involvement of C.N.S. than cranial nerve nuclei alone.

Karyotype and dermatoglyphics of the three affected subjects were normal. The authors hypothesized the same disorganogenetic factor acting very early (4th‐6th week of gestational age) on the metamerization process of limb buds mesoderm and brainstem gray matter.
Balanced reciprocal translocations: risk factors for aneuploid segregant viability
Authors: Davis John R. , Rogers Beverly Barton , Hagaman Roberta M. , Thies Cole A. , Veomett Iris C.
Published: July 2010

Reciprocal translocations were studied in two groups of balanced carrier couples: 202 had 210 translocation aneuploid liveborn (LB) infants, and 95 couples had repetitive abortions (AB) without liveborn ancuploids. The observed translocation aneuploidies in the LB group were compared to predicted potential aneuploidies in A B by frequency of chromosome involvement, meiotic segregation mode, and mean trisomic, monosomic and combined genomic imbalances. Qualitative and quantitative differences identified genomic regions and chromosomes possibly vital for in utero survivability. LB aneuploidies indicate non‐random chromosome involvement, selection of least detrimental segregants and segments, and predominant transmission from maternal balanced carriers (especially in 3:1 tertiary segregation, 93.5%). For an individual with a balanced reciprocal translocation and untested reproductive capability, an approach is given for predicting whether a translocation aneuploid conceptus will be liveborn or aborted.
5‐azacytidine treatments in the characterization of a t(1;21)(q12;q22) carrier karyotype
Authors: Schindler D. , Haaf T. , Schmid M.
Published: July 2010

A 46,XX,t(1;21)(q12;q22) carrier was ascertained because of two abortions. The non‐reciprocal nature of the rearrangement was demonstrated in 5‐azacytidine treated preparations with highly decondensed and somatically paired heterochromatic regions.