bluuebunny/crossref_metadata_2025 huggingface dataset:
An azoospermic male with presumably balanced reciprocal translocation
Authors: Lyberatou‐Moraitou E. , Kostaraki P. Grigori , Goulandris N. , Lyberatos C.
Published: July 2010

This report describes a physically normal man carrying a presumably balanced translocation between chromosomes 2 and 13. His karyotype was 46, XY, t(2;13)(q37;q15). The man was azoospermic. Testicular histology showed an arrest in spermatogenesis at the spermatocyte stage.
A study of mental retardation in children in the Island of Hawaii
Authors: Proops R. , Mayer M. , Jacobs P. A.
Published: July 2010

Eighty‐one probands from an initial population of 223 school‐aged retarded individuals were assessed by history, clinical examination and, where appropriate, cytogenetic analysis. In 51 individuals, the retardation occurred as an isolated event within the family, whereas 30 patients had a family history of retardation. In 39 of the isolated individuals, the retardation was either related to environmental factors or associated with a major neurological abnormality. The remaining 12 patients were phenotypically normal with no cytogenetic abnormality. Of the 30 probands from 15 families with a history of retardation, 3 families had X‐linked syndromes. One, with 4 proband daughters, had the mar(X) syndrome and two families were considered to have the phenotypically similar syndrome but without demonstrating the mar(X). In an additional 5 families, the distribution and clinical features of the affected individuals were compatible with nonspecific X‐linked mental retardation.
Infantile lethal neuraminidase deficiency (sialidosis)
Authors: Laver J. , Fried K. , Beer S. I. , Iancu T. C. , Heyman E. , Bach G. , Zeigler M.
Published: July 2010

An infant suffering from failure to thrive, hepatosplenomegaly, developmental retardation and early infantile death is described. The proposita demonstrated a type 2 early infantile sialidosis with onset at birth, and death at 4 months. A culture of the proband's fibroblasts showed neuraminidase deficiency, and low activity of the enzyme was found in the lymphocytes of both parents. A previous female child, born prematurely, died 6 h after birth and had hepatosplenomegaly and foam cells in the placenta. There is strong evidence that the inheritance of the disease is autosomal recessive.
Myotonic dystrophy: limited electromyo‐graphic abnormalities in 2 definite cases
Authors: Sun Sallie F. , Streib Erich W.
Published: July 2010

Two women, aged 37 and 38, with definite myotonic dystrophy are presented. Neither patient had clinical myotonia although both experienced intermittent jaw tightness. Electromyographic (EMG) myotonia was seen only in the masseter muscle in one and in the masseter and flexor pollicis longus muscle in the other patient. The detection rate of EMG‐myotonia in clinically normal heterozygotes increases if distal, proximal and cranial nerve innervated muscles are examined.
Clinical heterogeneity in a sibship with Niemann‐Pick disease type C
Authors: Yatziv S. , Gershon Z. Leibovitz‐Ben , Ornoy A. , Bach G.
Published: July 2010

The clinical presentation of Niemann‐Pick type C is variable. However, in families hitherto described, the affected individuals in a given sibship show a similar clinical course. A family with histological and biochemical findings of Niemann‐Pick type C is described. Four of the affected siblings presented with an early onset and a fulminant course resembling Niemann‐Pick type A, whereas in the fifth sibling a later onset and a much slower neurological deterioration was observed. Genetic counseling in families with Niemann‐Pick type C should take into consideration the possibility of clinical heterogeneity within the same sibship.
Genetic aspects of artificial insemination by donor (AID). Indications, surveillance and results
Authors: Cecos Federation , Mattei J. F. , Marec B. Le
Published: July 2010

The results provided by the Fédération des Centres d'Etude et de Conservation du Sperme Humain (CECOS) are based on 15,283 requests for AID. They are analysed from the point of view of medical genetics. The genetic indications represent 0.77% of requests for AID and can be separated into four groups: dominant autosomal abnormalities in the man, previous children affected by autosomal recessive conditions, chromosomal abnormalities in the man, and a miscellaneous group. In 2,502 births, a total of 45 malformations was seen, including nine chromosomal abnormalities. The possibility of an early amniocentesis for prenatal diagnosis in every pregnancy after AID is discussed.
Karyotype 47, XXY,18p‐ in a newborn child with holoprosencephaly
Authors: Schnabel R. , Hansen S.
Published: July 2010

This may be the first reported case of a 47, XXY,18p— (“Klinefelter‐de Grouchy I syndrome”), in a post‐term male neonate. The child had a dysmorphic facies, a small nose with a single orifice, cranial malformations and an alobar holoprosencephaly. These symptoms corresponded with the known phenotypic variants of the simple 18p— anomaly. The karyotypes of both parents were normal.
Chronic granulomatous disease carrier geno‐dermatosis (CGDCGD)
Authors: Finlay A. Y. , Kingston H. M. , Holt P. J. A.
Published: July 2010

A persistent eruption in light‐exposed areas in two related carriers of X‐linked chronic granulomatous disease is described. This eruption appears to be a separate entity, rather than a variant of cutaneous lupus erythematosus or Jessner's disease. Recognition may enable detection of carrier females prior to the birth of an affected son, so that genetic counselling and antenatal diagnosis can be instituted.
Family resemblance for fasting blood glucose in a population of Japanese Americans
Authors: Williams W. R. , Morton N. E. , Rao D. C. , Gulbrandsen C. L. , Rhoads G. G. , Kagan A.
Published: July 2010

The pattern of inheritance of fasting blood glucose was examined in a Japanese cohort of 500 nuclear families living in Hawaii. A principal component of glucose was defined to improve the ranking of diabetics and individuals receiving treatment (medication and/or diet) for hyperglycemia, thereby allowing as well as possible for inability to determine untreated levels in patients. Results from path and segregation analysis show that family resemblance for glucose is low in this population. The additive variation can be explained by a cultural model of inheritance without introducing intergenerational differences, a maternal‐paternal effect, or even genetic parameters. Heritability is approximately 0.125. Complex segregation analysis provides no convincing evidence for a major gene, with preliminary support based upon leptokurtic outliers in five families disappearing on further analysis by partial truncation. A claim by other workers of a major recessive gene for hyperglycemia may be due to their failure to allow for treatment, skewness, and multifactorial heritability. In future, the search for major loci acting on liability to hyperglycemia should use multiple determinations of fasting glucose or be addressed to more primary and repeatable variables than fasting blood glucose.
The fragile X chromosome in a large Indian kindred
Authors: Gardner R. J. M. , Smart R. D. , Cornell J. M. , Merckel L. M. , Beighton P.
Published: July 2010

A large Indian kindred in which the fragile X chromosome is segregating has been investigated in Cape Town. Eight male hemizygotes and four female heterozygotes were mentally retarded. There is suggestive evidence that one deceased male of reportedly normal intelligence may have been a hemizygote. The existence of the fragile X syndrome in a number of different ethnic groups supports the contention that the gene controlling the phenotype and the fragile site are the same, or at least overlap.
Reflections on muscular dystrophy in a Sudanese kindred
Authors: Salih M. A. M. , Roberts D. F. , Omer M. I. A. , Karrar O. , Bayoumi R. A.
Published: July 2010

An extended kindred in the Sudan, where a severe muscular dystrophy has been interpreted as of autosomal recessive inheritance, has been further analysed. The within‐sibship ratio, the autosomal and X‐linked inbreeding coefficients, and the creatine kinase levels suggest a possible alternative interpretation: X‐linked muscular dystrophy with failure of clinical expression in some males.
Comparative diagnostic value of phenyla‐lanine challenge and phenylalanine hydroxylase activity in phenylketonuria
Authors: Hsieh Monica C. , Berry Helen K. , Bofinger Mary K. , Phillips Pamela J. , Guilfoile Mary Beth , Hunt Melanie M.
Published: July 2010

Serum phenylalanine (phe) concentrations during and following phe challenges and liver phenylalanine hydroxylase (PH) activity were compared in 13 phenylketonuric (PKU) patients. These patients were separated into two groups: eight patients with no detectable PH activity (PH°) and five patients with residual PH activity (PH‐) ranging from 9 to 24% of the activity obtained in 10 non‐PKU subjects. The rise in serum phe concentration during 3 days of oral loading did not differentiate the two groups. However, the difference in serum phe concentration of the PH° and PH‐ groups reached statistical significance at 24 h postloading (p<0.01). We concluded that combined results from multiple measurements during the oral challenge, namely serum phe concentration after termination of loading, serum phe clearance rate, post‐loading phe tolerance index and urinary metabolite excretion, make a better indicator for predicting residual PH activity for the majority of PKU subjects than peak phe concentrations during phe challenge.
Blood pressure and myotonic dystrophy
Authors: O'Brien T. , Harper P. S. , Newcombe R. G.
Published: July 2010

The blood pressures of 79 consecutive patients with myotonic dystrophy have been shown to be significantly lower than those of a control series. Reanalysis of previously published data on a group of 17 myotonic dystrophy patients shows a similar result. The possibility that relative hypotension may confer a selective genetic advantage on asymptomatic gene carriers in the community is considered. It is suggested that, since patients with minimal clinical evidence of disease are also hypotensive, measurement of blood pressure may be useful as an adjunct to other methods of preclinical diagnosis of myotonic dystrophy.
Cytogentic studies of a patient with mosaicism of isochromosome 13q and a dicentric (Y; 13) translocation showing differential centromeric activity
Authors: Ing Paul S. , Smith Shelley D.
Published: July 2010

A case is presened in which both an isochromosome and a dicentric translocation with differential centromere activity are found in one individual. Three karyotypes are present: 46, XY, ‐13, isochromosome 13q is found in 23% of cells in blood and 5% in skin. The dicentric (Y;13), + i(13q)/45,X, ‐13, + psu dic(13)t(13;Y)/45,X, ‐13, + psu dic(Y)t(Y;13). The isochromosome in all of the remaining cells displays differential centromeric activity; the ratio of cells with the acitve 13 centromere to the acstive Y centromere is about 3.5:1.

The formation of the isochromosome 13q was a de novo gametic event. The translocation producing the dicentric occurred after fertilization with the breakpoints at band Yq12 and the juxta‐centromeric region of the isochromosome 13. The finding of differential centromeric activity in this chromosome indicates that centromere inactivation is not always permanent in a dicentric translocation.
Ethical and social aspects of risk predictions
Authors: Fletcher John C.
Published: July 2010

This paper reviews past, present and future social and ethical considerations of screening carriers of autosomal disorders and other heterozygotes. A body of ethical and social guidance has evolved in the 1970's and 1980's for screening. The values of voluntaristic participation and informed consent are high. The goal of programs should be to provide couples, families, and individuals with knowledge respecting their reproductive choices. The dangers are coercive strategies, stigmatization, and careless communication of risk information. It is assumed that the number of autosomal carrier states that are screenable will undoubtedly increase as will states of heterozygosity that cause susceptibility to common diseases. Before the end of the century, something approaching a “biopsy of the human genome” will be a practical reality. To balance the potential for harmful psychological and social effects of so much new genetic knowledge, new efforts must be made to find treatments for progeny affected by recessive disorders. Maternal and paternal screening, prenatal diagnosis and treatment will be increasingly linked in the future. This paper will report on a case of fetal therapy for congenital adrenal hyperplasia as a paradigm for the future. The argument will be made that society ought to put a higher priority on prenatal care and prevention of disorders of prematurity than genetic disorders with a low frequency, lest genetic screening be distorted by unfounded concern about eugenics.
Chromosomal constitution of infertile men
Authors: Mićić Miroslava , Mićić Sava , Diklić Vukosava
Published: July 2010

Mitotic chromosome analyses performed on 820 infertile men revealed 60 (7.3%) men with some kind of chromosomal abnormality. Sex chromosomal abnormalities were detected in 28 (3.4%) and autosomal translocations in 9 (1.0%). Pericentric inversions of chromosome 9, with possible adverse effect on reproduction, was found in 23 (2.8%). Chromosome variants comprised a group of 77 (9.3%) subjects. We suggest that men with severe oligozoospermia and azoospermia should be considered for cytogenetical evaluation.
Polymorphism of the human Y chromosome: the evaluation of the correlation between the DNA content and the size of the heterochromatin and euchromatin*
Authors: Skawiński Waldemar , Parcheta Barbara
Published: July 2010

The length of the Y chromosome with its fluorescent and non‐fluorescent portion was measured in Q‐banded metaphases. The same preparations were stained by Feulgen method. The DNA content and size of the Y chromosome were assessed. The length of Y chromosome was normalized by taking into account differences in contraction rate of the heterochromatin and euchromatin. It was indicated that polymorphism of the Y chromosome size and DNA content was correlated with change in length of both the heterochromatin and euchromatin.
In vitro reversal of fragile‐X expression by exogenous thymidine
Authors: Gardiner Gale B. , Wenger Sharon L. , Steele Mark W.
Published: July 2010

A virtually thymidine free medium was used to test the effects of exogenous thymidine on lymphocyte expression of the fragile‐X. De novo pathway thymidylic acid synthesis in the cells was blocked by FUdR. Our results suggest that in vitro exogenous thymidine is directly responsible for suppressing expression of the fragile‐X. More importantly, delayed addition of exogenous thymidine can negate fragile‐X expression after it has first been induced by FUdR.
Marker chromosomes in parents to children with Down's syndrome
Authors: Annerén G. , Wahlström J. , Tommerup N.
Published: July 2010

The incidence of an extra marker chromosome in the normal population is low, about 0.26 per 1,000, and that of trisomy 21 is about 1.25 per 1,000. The incidence of both these chromosomal abnormalities in the same family should be very low, if this occurs by chance.

Thirteen cases of Down's syndrome in 10 families in which one of the parents had an extra marker chromosome have been reported earlier. In three of these families there were two siblings with Down's syndrome.

The present report describes two families in which an extra marker chromosome was found in one of the parents and in which three of the offspring had a trisomy 21 karyotype. From the findings at Q‐ and AgNOR banding of the chromosomes it seemed probable that in one case this extra marker chromosome was an isochromosome for the short arm of an acrocentric chromosome.

It seems very likely that marker chromosomes in healthy mothers are of pathogenetic importance for non‐disjunction, resulting in a trisomy 21 offspring. A finding of an extra marker chromosome in one of the parents should therefore be taken into consideration in genetic counselling.
The syndromic status of sclerosteosis and van Buchem disease
Authors: Beighton P. , Barnard A. , Hamersma H. , Wouden A. van der
Published: July 2010

We have examined 50 persons with sclerosteosis in the Afrikaner community of South Africa and 15 individuals with van Buchem disease in Holland. The clinical and radiographic manifestations of these conditions are very similar, the only notable differences being greater severity and syndactyly in the majority of the patients with sclerosteosis.

The Afrikaners have Dutch antecedants and it seems likely that these autosomal recessive disorders result from homozygosity of the same faulty genes. The phenotypic variation may be due to the epistatic effect of modifying genes in the Afrikaner population.
Mucopolysaccharidosis III B: hybridization studies on fibroblasts from a mild case and fibroblasts from severe patients
Authors: Ballabio Andrea , Pallini Rita , Natale Paola Di
Published: July 2010

Cell fusion with polyethylene glycol (PEG) was performed on fibroblasts from a previously studied patient with a mild form of Sanfilippo B disease and altered residual enzyme activity and fibroblasts from several patients with the classical, severe form of the disease. No complementation was found in heterokaryons. This suggests that the mild phenotype in our patient can be ascribed to an allelic mutation.
Dermal changes in Ehlers‐Danlos syndrome
Authors: Kobayasi Takasi , Oguchi Motoi , Asboe‐Hansen Gustav
Published: July 2010

Skin biopsies from thirteen patients suffering from Ehlers‐Danlos syndrome, including 6 of the mitis type, 4 of the benign hypermobile type, one of the X‐linked type, one of the ocular type and one of the periodontitis type, were studied by electron microscopy after routine preparation.

Collagen fibrils showed a distorted arrangement of bent, curled or twisted fibrils and threadlike material. Similar changes may be seen in the skin of other hereditary disorders of connective tissue. However, abnormal collagen fibrils in normal skin suggests one of eight Jypes of Ehlers‐Danlos syndrome. Clinical variants cannot be differentiated on the basis of ultrastructural findings. Elastic fibres were normal without degenerative changes. Perineurium was lacking in dermal nerves of most patients. Fibroblast‐like cells showed no cystic cisterna of endoplasmic reticula.
Alpha‐1‐antitrypsin types and rheumatoid arthritis
Authors: Beckman G. , Beckman L. , Bjelle A. , Dahlqvist S. Rantapää
Published: July 2010

Frequencies of alpha‐1‐antitrypsin (Pi) phenotypes were studied in 100 female and 100 male Swedish patients with classical rheumatoid arthritis and compared with the population frequencies. A significant increase of rare Pi types (MS, MZ, MF and SZ) was found among the patients. However, the increase concerned mainly Z heterozygotes and was more strongly pronounced in male patients. The M‐subtypes showed no association with rheumatoid arthritis. Previous investigations of Pi types in rheumatoid arthritis have shown somewhat variable results. The results so far indicate, however, that an association between the Z allele and rheumatoid arthritis is likely to exist, while the evidence for a relationship between rheumatoid arthritis and other Pi alleles is considerably weaker.
Renal agenesis as a diagnostic feature of the crypthophthalmos‐syndactyly syndrome
Authors: Lurie I. W. , Cherstvoy E. D.
Published: July 2010

Four families with the cryptophthalmos‐syndactyly syndrome are reported. Nine affected patients died in perinatal period. Autopsy, performed in 6 cases, revealed renal agenesis (bilateral in 3 and unilateral in 3 cases). These observations together with recent literature data suggest that renal malformations (agenesis or severe hypoplasia) are one of the most common features of the cryptophthalmos‐syndactyly syndrome and may serve as one of diagnostic criteria for this entity.
Asymmetric skeletal anomalies in siblings
Authors: Stanley Wayne S. , Jr Mason Barr , Hensinger Robert , Ruby Stephen G. , Dyke Daniel L. Van , Weiss Lester
Published: July 2010

We describe two siblings with asymmetric limb reduction malformations. Such anomalies are usually considered to result from sporadic events, but the recurrence in siblings without any identifiable teratogenic insult suggests a genetic etiology. This finding becomes important when parents are counseled about future pregnancies. The use of prenatal diagnostic techniques during subsequent pregnancies should be considered.
Linkage of plasma α‐L‐fucosidase (FUCA2) and the plasminogen (PLG) system
Authors: Eiberg H. , Mohr J. , Nielsen L. S.
Published: July 2010

Plasma fucosidase (FUCA2) was examined by means of a technique using p‐nitrophenyl‐α‐L‐fucopyranoside as substrate. The material consisted of normal Danish families, including 1,672 unrelated persons (parents). In this material the low activity allele frequency was found to be plow= 0.286 which agrees with earlier studies in European populations. The allele frequencies did not differ significantly between the sexes. Segregation ratios agreed with the hypothesis that ‘low’ is due to an autosomal recessive allele. Our results give a strong indication of linkage for FUC A2‐PLG (ž= 7.37 θ=0.12) in males, and the linkage may be considered as formally demonstrated. The PLG‐system as judged from our indication of linkage with GC (ž= 2.35, θ= 0.30 in males) is then possibly located on chromosome 4p (Eiberg et al. 1981).
Cluster of acute infantile spinal muscular atrophy (Werdnig‐Hoffmann disease) in a limited area of Reunion Island
Authors: Pascalet‐Guidon Marie‐Josée , Bois Etienne , Feingold Josué , Mattei Jean‐François , Combes Jean‐Claude , Hamon Christine
Published: July 2010

A retrospective study of Werdnig‐Hoffmann disease (spinal muscular atrophy type 1) was undertaken on Reunion Island. Nineteen WH cases born between 1969 and 1980 were recorded belonging to thirteen sibships of the European population of the island.

Genealogical analysis, going back to the XVIIth century (1642), showed a relationship among the 13 families, which were derived from a common ancestral pair.

A founder effect is the most probable explanation for the concentration of Werdnig‐Hoffmann disease in the area.
Trisomy 9 (pter → q1 to q3): the phenotype as an objective aid to karyotypic interpretation
Authors: Preus M. , Schinzel A. , Ayme S. , Kauser K.
Published: July 2010

The phenotypic findings of three patients whose karyotypic interpretations were uncertain were compared to patients with trisomy 9 (pter → ql to q3). One with an extra, small acrocentric chromosome and another with a trisomy due to an inherited C/G translocation have a phenotype compatible with the trisomy 9 (pter → ql) syndrome. In a third patient reported with 47, XY, ?16+, the trisomy 9p probably extends past the ql region.
Duplication in the proximal portion of the long arm of chromosome 15, in a girl without phenotypic features of the Prader‐Willi syndrome
Authors: Veenema H. , Beverstock G. C. , Zvelebil‐Tarasevitch N. , Doorn J. L. , Parys J. A. P. van , Kamp J. J. P. V.D.
Published: July 2010

The present report concerns a mentally retarded 14‐year‐old girl with epilepsy. Her karyotype showed a duplication in the proximal portion of the long arm of chromosome 15. Deficiency as well as excess of chromosome 15 material is sometimes associated with Prader‐Willi Syndrome. On clinical investigation no symptoms of this syndrome were found in our patient. The abnormal chromosome appeared to have a duplication for the bands q 14 and q 15.
Mental retardation, short stature, minor skeletal anomalies, craniofacial dysmorphism and macrodontia in two sisters and their mother
Authors: Fryns J. P. , Haspeslagh M.
Published: July 2010

Mental retardation associated with short stature, craniofacial dysmorphism, macrodontia and minor skeletal anomalies is reported in two sisters and their mother.

The similarity with and the relationship to the KBG syndrome is discussed and the importance of clinical syndrome identification in familial mental retardation is emphasised.
Reduced plasma concentrations of total, low density lipoprotein and high density lipoprotein cholesterol in patients with Gaucher type I disease
Authors: Ginsberg Henry , Grabowski Gregory A. , Gibson Joyce Corey , Fagerstrom Richard , Goldblatt Jack , Gilbert Harriet S. , Desnick Robert J.
Published: July 2010

Plasma lipid and serum apoprotein concentrations were determined in twenty‐nine individuals with Gaucher type I disease. Plasma total cholesterol, low density lipoprotein (LDL) cholesterol and high density lipoprotein (HDL) cholesterol were all significantly reduced in the patients with Gaucher disease compared to a group of matched control subjects. Total, LDL and HDL cholesterol were lower in males than in females with Gaucher disease. These sex differences appeared to be inversely correlated with the severity of disease manifestations which were greater in the males. Serum levels of apoprotein‐B and apoprotein‐AI, the major structural apoproteins of LDL and HDL, respectively, were decreased in the subjects with Gaucher disease. Thus, the reductions in LDL and HDL cholesterol were associated with reduced numbers of lipoprotein particles in plasma. In contrast, apoprotein‐E, a protein which is secreted by several tissues, including activated macrophages and which may mediate hepatic catabolism of lipoproteins, was elevated in the patients. Since macrophages may also catabolize lipoproteins, Gaucher disease may serve as a model for the effect of activated macrophages upon human lipoprotein metabolism.

This work was supported by the following grants: USPHS HL 23077, HD 07105, HL 25752, CA 31656 and RR‐71 from the National Institutes of Health; 1–273 and 1–578 from the March of Dimes Birth Defects Foundation; grant from the New York Heart Assocation. Dr. Ginsberg is a recipient of a Research Career Development Award HL 00949 and is an Irma T. Hirschl Career Scientist. Dr. Grabowski is a recipient of a Clinical Investigator Award HD 00386.
Fragile 22q13 segregating in a family
Authors: Webb T. , Thake A.
Published: July 2010

During the course of a population study of non‐specific mental retardation in school‐age males, a 13‐year‐old boy was ascertained. Cytogenetic studies revealed the presence of a fragile site at chromosome 22. The site was found to be both folate‐dependent and heritable. The possibility that the presence of this fragile site is linked to mental retardation is discussed.
Combined sialidase (neuraminidase) and β‐galactosidase deficiency. Clinical, morphological and enzymological observations in a patient
Authors: Loonen M. C. B. , Reuser A. J. J. , Visser P. , Arts W. F. M.
Published: July 2010

A patient with combined deficiency of sialidase and β‐galactosidase is described. This now 39‐year‐old man, who is of Japanese origin, showed gradually progressive clinical features from the age of six years. Many of these features are commonly found in sialidosis type 2 or in GM1‐gangliosidosis. Both sialidase and β‐galactosidase activities were deficient in leucocytes and cultured fibroblasts. Leucocytes of his mother showed activities of both enzymes in the lower limit of the control range.

Morphologically, the pattern of storage products in a skin biopsy resembled in many respects that seen in GM1‐gangliosidosis. Moreover, storage products which could be typical of sialidosis were also observed. Since the patient showed angiokeratomata, the morphological findings were compared with those specific to Fabry's disease, but no similarities were found.

An enzymological diagnosis of the disease is most reliable on cultured fibroblasts, discriminating it from sialidosis type 2 and GM1‐gangliosidosis. In view of recent findings, leucocytes seem to be less suitable for the establishment of the diagnosis galactosialidosis.
A young girl with ring(18) mosaicism: cytogenetic studies and PEP A mapping
Authors: Rocchi Mariano , Cigui Ileana , Archidiacono Nicoletta , Pecile Vanna , Porcelli Giovanni , Filippi Giorgio
Published: July 2010

A young girl with 46, XX, r(18)/46, XX/45, XX, –18 chromosome constitution is reported. She displays a slight degree of mental retardation. The line with the ring chromosome predominates in blood lymphocytes. In skin fibroblast culture the ring(18) line showed a constant decreasing trend, from 45% at the first passage, down to its disappearance at the 19th passage, where only 46, XX cells were observed. The child/mid parents' ratio of Peptidase A activity in red cells was 0.36. The Peptidase A activity in a fibroblast clone 46, XX, r(l 8) was 0.55 compared to the 46, XX line. These data suggest that the PEP A locus was lost in ring formation.
Date of conception and prevention of neural tube defects
Authors: Dallaire Louis , Melancon Serge B. , Potier Michel , Mathieu Jean‐P. , Ducharme Gilles
Published: July 2010

The authors studied the time of conception of 280 fetuses and liveborns with anencephaly or spina bifida seen in a French Canadian population during a period of six years. There is an evident seasonal variation in the conception of NTD fetuses. Using a wave statistical model applied to data recorded over a six year period the authors have rejected the “no variation between the six two‐month intervals” hypothesis at a P ≤ 0.005 level. It is postulated that, in any vitamin intake or environment program to prevent NTD in families at risk, one must take into account the annual and seasonal variations, ethnic groups identity and the date of conception in the choice of control mothers.
A new syndrome with camptodactyly, joint contractures, facial anomalies, and skeletal defects: a case report and review of syndromes with camptodactyly
Authors: Rozin M. M. , Hertz M. , Goodman R. M.
Published: July 2010

A new camptodactyly syndrome is described in a 16‐year‐old Sephardic Jewish girl consisting of unusual facies with multiple eye anomalies, short stature, scoliosis, and joint contractures. Parental consanguinity is suggestive of an autosomal recessive mode of inheritance, although a new autosomal dominant mutation cannot be excluded. Fourty‐four syndromes associated with camptodactyly are summarized and reviewed.
Del 11p/aniridia complex. Report of three patients and review of 37 observations from the literature
Authors: Turleau Catherine , de Grouchy Jean , Tournade Marie‐France , Gagnadoux Marie‐France , Junien Claudine
Published: July 2010

Three patients (two females, one male) are reported with bilateral aniridia, Wilms' tumor, more or less moderate mental retardation, decreased catalase activity, and del 1 lp13. These and 34 case reports from the literature are discussed with respect to: sex ratio, maternal age, type of chromosomal imbalance and frequency of associated rearrangements, prevalence of aniridia and other eye disorders, predisposition to tumor development, genitourinary anomalies, growth and mental retardation, and catalase involvement. Possible gene relationship within the complex locus and with neighbouring 1 lp genes is discussed.
Confirmation of F13A assignment and sequence information concerning F13A‐HLA‐GLO
Authors: Eiberg H. , Nielsen L. S. , Mohr J.
Published: July 2010

The polymorphism of the blood clotting factor F13A was examined in some of our Danish material of normal families. A total of four alleles were recognized, with allele frequencies as follows: F13A*1 =0.817, F13A*2 = 0.177, F13A*4 = 0.003 and a new allele F13A*5%0.003. The distribution of unrelated individuals did not deviate significantly from the Hardy‐Weinberg expectation. Linkage of F13A with HLA was confirmed (ẑ%5.18, θ=0.17 in males and ẑ%0.14, θ=0.37 in females). The sequence of the three systems F13A, HLA and GLO was found to be F13A‐HLA‐GLO as judged from two families each with a recombinant within the HLA system in males.
Diagnosing of chromosome abnormalities in Denmark
Authors: Nielsen J. , Videbech P.
Published: July 2010

A survey of how frequent chromosome abnormalities are diagnosed in Denmark prenatally as well as postnatally compared with the expected incidence in an 11‐year period 1970–1980 has been made from the Danish Cytogenetic Central Register.

Ten percent of the expected number of Klinefelter's syndrome, 41% of Turner's syndrome and 10% of other sex chromosome abnormalities in children born between 1970 and 1980 have been diagnosed until January 1, 1983.

The total frequency of diagnosed cases with sex chromosome abnormalities is 13% of the expected number. Induced abortion was made in 62% of the cases with sex chromosome abnormalities diagnosed prenatally.

Ninety percent of all cases with Down's syndrome were diagnosed by chromosome examination, and 10% were diagnosed prenatally and aborted. During the last part of the period from 1977–1980 this had increased to 20%. Thirty‐seven percent of cases with other chromosome abnormalities were diagnosed.

Among the expected 4,396 children with chromosome abnormalities to be born between 1970 and 1980, a total of 39% were diagnosed postnatally until January 1, 1983, and 10% were diagnosed prenatally.

It is concluded that there is a great need for training consultants in clinical genetics, expansion and further decentralization of cytogenetic service with more cytogenetic laboratories and employment of clinical geneticists in all 14 Danish counties.
Oculocutaneous albinism and anterior chambre cleavage malformations
Authors: Dorp D. B. VAN , Delleman J. W. , Loewer‐Sieger D. H.
Published: July 2010

We report on 6 patients out of a group of 86 albinos, with an additional eye defect: an anterior chamber cleavage disorder, i.e. a frequency of 7%. Given this high percentage of the coexistence of these two, we believe that this is not a coincidence.
Autosomal dominant lamellar ichthyosis: a new skin disorder*
Authors: Traupe H. , Kolde G. , Happle R.
Published: July 2010

Lamellar ichthyosis (nonbullous congenital ichthyosis) has been explained as an autosomal recessive trait. We have found an autosomal dominant type of this disorder. Four patients, belonging to three consecutive generations of a family, were affected from birth. The disorder was characterized by large, dark brown scales covering the entire body including flexural folds, palms and soles. X‐linked recessive ichthyosis was excluded by clinical appearance, pattern of transmission and normal electrophoretic mobility of beta‐lipoproteins. Autosomal dominant ichthyosis vulgaris and bullous ichthyosiform erythroderma were excluded by the histological and ultrastructural features. In the absence of a positive family history, this skin disorder would have been taken for autosomal recessive lamellar ichthyosis. This new autosomal dominant type of ichthyosis should be considered for differential diagnosis, when genetic counselling is given in a sporadic case of lamellar ichthyosis.
Maternal translocation t(13:18)(q34:q11) and Edwar's syndrome in a fetus: 47, XY, t(13:18)(q34:q11) + 18
Authors: Marković Stefanija , Boué Joëlle , Krstić Miomir , &Scar;ulović Vohn , DOćCIć SLobodan , ADćIć SLAVENKA
Published: July 2010

A 32‐year‐old woman, who presented with four spontaneous abortions, was found to have a balanced translocation:46, XX, t(13:18)(q34:qll). In the last pregnancy an amniocentesis was done. Abnormal constitution of the fetus had been detected:47, XY, t(13:18)(q34:ql 1) +18, and an abortion was induced. Examination of the fetal tissue confirmed the finding. The fetus showed the characteristics of Edwar's syndrome. Through the patient's pedigree it was discovered that balanced translocation appeared in three generations.
Isochromosome 18q with karyotype 46, XX, i(18q). Cytogenetics and pathology
Authors: Froster‐Iskenius Ursula , Coerdt Wiltrud , Rehder Helga , Schwinger E.
Published: July 2010

Cytogenetic and morphological findings of a 20‐gestational‐week‐old female fetus with karyotype 46, XX, i(18q) are reported. The fetus displayed clinical features resembling Edward's syndrome. No characteristic symptoms of monosomy 18p could be observed.
Fetal mortality in sibships of cases with neural tube defects
Authors: Lippman Abby
Published: July 2010

It has been suggested that rates of fetal mortality in sibships of probands with a malformation inherited as a multifactorial threshold trait may reflect their liability to the malformation. If so, spontaneous abortion rates should be more frequent in sibships thought to have greater liability. For anencephaly and spina bifida (ASB), then, spontaneous abortion should be higher in the sibships of male probands and in families with more than one affected case (multiplex families).

This hypothesis was tested using data on cases from The Montreal Children's Hospital and from the literature. Approximately 5000 pregnancies were analyzed. Rates of abortion did not vary with the sex or diagnosis of the proband. The spontaneous abortion rate was slightly higher in multiplex than in simplex families, but the difference was not statistically significant and most likely reflects the differing reproductive patterns in the two types of families. Thus, if male probands and multiplex sibships do have, on average, more liability for ASB, this liability cannot be detected in spontaneous abortion rates in the sibships available for this analysis.
Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?
Authors: Poulos A. , Sharp P. , Whiting M.
Published: July 2010

The activity of phytanic acid oxidase is low in infantile and adult Refsum's disease, and in the cerebro‐hepato‐renal (Zellweger's) syndrome. The plasma of patients with the infantile but not the adult form of Refsum's disease contains increased amounts of pipecolic acid and of at least two abnormal bile acids, one of which has been identified as 3α, 7α, 12α trihydroxy‐5β‐cholestan‐26‐oic acid. These changes are similar to those reported in the Zellweger syndrome and indicate that there may be similarities in the metabolic defects in Zellweger's syndrome and the infantile form of Refsum's disease.
Two fertile Turner women in a family
Authors: Ayuso Ma Carmen , Bello Ma José , Benitez Javier , Sanchez‐Cascos Andrés , Mendoza Gladys
Published: July 2010

Two fertile women, mother and daughter, both presenting sex chromosomal mosaicism (45, X/46, XX/47, XXX and 45, X/46, Xr(X)) are reported. The mechanisms through which a Turner woman can eventually be fertile are discussed.
Clinical delineation of proximal and distal partial 13q trisomy
Authors: Rogers J. Felix
Published: July 2010

The most relevant phenotypic features seen in both proximal and distal partial trisomy 13 have been identified from a review of 35 cases. Clinical delineation of either proximal or distal partial trisomy 13 has been demonstrated through the use of conspicuous phenotypic differences. The findings of persistent foetal Hb and increased number of nuclear projections on neutrophils are consistent findings associated with partial trisomy of a proximal segment of chromosome 13 and are diagnostic for trisomy of a partial segment of chromosome 13 that contains bands 13q 12 and 13q14. The physical features of polydactyly and hemangioma have been mapped to bands 13q31 and 13q32–→13qter and provide a differential diagnosis for a distal trisomic segment of chromosome 13 that may include bands 13q22→13qter. A segment of chromosome 13 has been identified that does not produce any detectable phenotypes in the triplicated state. The possible role of a triplicated 13q segment in altering expression of structural and regulatory systems elsewhere in the genome has been examined. Distinct clinical syndromes involving either a partial proximal or partial distal trisomic segment of chromosome 13 may be phenotypically defined.
Low density lipoprotein receptors in cultured skin fibroblasts from psoriasis patients
Authors: Leren Trond P. , Maartmann‐Moe Kjell , Thune Per , Berg Kåre
Published: July 2010

Low density lipoprotein (LDL) receptor activity, measured as 125I‐LDL association and degradation at 37 °C, was determined in cultured fibroblasts from involved as well as uninvolved skin obtained from 20 psoriasis patients. The same analyses were conducted in fibroblasts from two reference groups consisting of 19 heterozygotes for familial hypercholesterolemia and 16 normal subjects, respectively.

Psoriasis patients had significantly lower LDL receptor activity than normals, and it was comparable to that of the heterozygotes for familial hypercholesterolemia. The reduced LDL receptor activity was not accompanied by an increase in total serum cholesterol. The psoriasis patients had a significant reduction in apo‐B concentration, but did not differ from the normals in the other serum lipid or lipoprotein parameters. There was no difference in LDL receptor activity between involved and uninvolved skin from psoriasis patients.

These results suggest that there is an abnormal cell membrane in dermal fibroblasts from psoriasis patients. Since their total serum cholesterol is normal, their low LDL receptor activity may be confined to dermal cells, leaving the hepatic lipid metabolism normal. The pathogenetic significance of this finding is unknown.
Anomalous cerebral venous drainage in Aarskog syndrome
Authors: van den Bergh P. , Fryns J. P. , Wilms G. , Piot R. , Dralands G. , van den Bergh R.
Published: July 2010

A 17‐year‐old female developed a syndrome of benign intracranial hypertension after a minor craniocerebral trauma. On the vertex a congenital scalp anomaly was noticed. An underlying bone defect was revealed by skull radiographs. Cerebral angiography showed absence of the straight sinus as well as other abnormalities of the cerebral venous drainage. In addition, several dysmorphic features, especially of the face and hands were present, which were also found in the mother and the sister. These stigmata could be interpreted as a partial expression of the Aarskog (facial‐digital‐genital) syndrome after examination of the 9‐year‐old brother who presented the typical facial, digital and genital features of this X‐linked recessively inherited syndrome.
Fetal mortality in oral cleft families (V): studies of sporadic vs familial and pure vs syndromic clefts
Authors: Dronamraju Krishna R. , Bixler David
Published: July 2010

The frequencies of fetal deaths in sibships of oral cleft probands are analysed in relation to sporadic or familial clefts, and pure or syndromic clefts. In a study of 1823 pregnancies in 630 sibships of probands with CL(P), the frequency of fetal deaths was found to be increased, but not significantly, in the sporadic group as compared to the familial group of sibships from Indiana. However, such an increase was found to be significant in the Montreal data. The pooled data from both these centers also show a significant increase in the sporadic group. For CP, no such differences were found.

Similar comparisons of fetal mortality in relation to pure and syndromic clefts indicated that the frequencies of fetal deaths were consistently elevated in sibships of probands with syndromic clefts with one exception, which is the Indiana CP group where the lowest frequency of fetal deaths was observed in the sibships. This group mostly consisted of sibships with solitary pregnancies. This may have been a result of early zygotic mortality in this group. Further data will be obtained to confirm this observation.
Autosomal recessive inheritance of juvenile periodontitis: test of a hypothesis
Authors: Saxén Leena , Nevanlinna H. R.
Published: July 2010

The heredity of juvenile periodontitis was studied in a series of 30 families. None of the 60 parents showed any sign of this disease. Of the 52 siblings, nine in seven families were affected. The calculated genetic ratio concurred with the hypothesis of autosomal recessive inheritance based on the results of an earlier study of 31 families (Saxén 1980).
Severe limb malformations in 4p deletion
Authors: Haspeslagh M. , Fryns J. P. , Moerman Ph.
Published: July 2010

Severe limb anomalies with radial aplasia and hypodactylia are reported in a male newborn with 4p deletion syndrome. In apparent contradiction with previous reports, this finding indicates that the radial aplasia, as frequently observed in patients with ring chromosome 4, seems to be more likely related to the 4p deletion, rather than to the 4q deletion.
Analysis of human sperm chromosome complements from a male heterozygous for a reciprocal translocation t(11;22)(q23;q11)
Authors: Martin Renee H.
Published: July 2010

A reciprocal translocation between chromosomes 11 and 22 (t(11;22)(q23;q11)) is a site‐specific translocation that is of particular interest because of the propensity for 3:1 segregation of the chromosomes during meiosis. There have been no published reports of chromosomally unbalanced offspring born as a result of adjacent 1 or 2 meiotic segregations in a heterozygote for this translocation. This could be explained by a meiotic mechanism which produces only 3:1 chromosomal segregations or by differential embryonic survival in which 2:2 adjacent segregations do not produce a viable pregnancy. To distinguish between these two possibilities, sperm chromosome complements from a man heterozygous for this 11;22 translocation were studied. The human sperm chromosomes were analysed after fertilization of zona pellucida‐free golden hamster eggs. All possible 2:2 (alternate, adjacent 1, adjacent 2) and 3:1 segregations were observed and these segregations occurred in approximately equal frequencies. The frequency of other chromosome abnormalities, unrelated to the translocation, did not appear to be increased. These results indicate that the 11;22 translocation does not specifically cause 3:1 disjunction of chromosomes but that this segregation of chromosomes is more likely to result in a viable pregnancy.
Isolated asternia: an independent entity
Authors: Haque Khalid N.
Published: July 2010

Six cases of isolated asternia are described, their case histories and progress are reviewed. The relevant literature is reviewed and suggestions made towards etiology.
Smith‐Lemli‐Opitz syndrome in two 46,XY infants with female external genitalia
Authors: Greene Carol , Pitts William , Rosenfeld Ron , Luzzatt Luigi
Published: July 2010

Two infants with features of the Smith‐Lemli‐Opitz (SLO) syndrome were found to have a 46,XY karyotype and female external genitalia. Autopsies showed normal testes for age with normal Wolffian duct structures and without Müllerian duct derivatives. This failure of masculinization of the external genitalia is an unusual finding and may represent the extreme of a spectrum of the genital anomalies commonly seen in males with this autosomal recessive syndrome. An endocrine evaluation on one of these infants at 3 months suggested unusually low testosterone production and meagre response to stimulation with human chorionic gonadotro‐pin (hCG). The failure of complete masculinization of external genitalia in some cases of SLO syndrome may be due to inadequate testosterone production in utero.
The Williams syndrome: objective definition and diagnosis
Authors: Preus M.
Published: July 2010

Fifty‐two patients referred for suspicion of the Williams syndrome have been evaluated and divided into those with and without the syndrome by numerical analysis. A diagnostic index using 50 characters separates patients into two groups with an expected accuracy of 99%. An index using 40 of the characteristics is expected to be applicable to young infants without a substantial decrease in accuracy.
Differential diagnosis of the Williams and the Noonan syndromes
Authors: Preus M.
Published: July 2010

A diagnostic index has been devised to distinguish between the Noonan and the Williams syndromes. Twins from the literature reported as having the Williams syndrome more likely represent the Noonan syndrome.