摘要:

Prenatal diagnosis of the Meckel syndrome was made at 20 weeks of gestation from the findings of a biparietal diameter smaller than expected for gestational age, a grossly raised amniotic fluid alphafetoprotein level and a rapid growth of foetal macrophages after 20 hours culture. Termination at 23 weeks of gestation resulted in a male foetus with an occipital encephalocele, microcephaly, Polydactyly, and bilateral polycystic kidneys. This case report emphasises the importance for genetic counselling of delineating the Meckel syndrome from the multifactorial cases of neural tube defects, and also illustrates, at least in some cases, that the syndrome can be diagnosedin utero.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb02021.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Data are presented on several polymorphic genetic markers in 200 Greek gypsies. Polymorphic loci studied were: the ABO, MN, Rhesus, Kell and Duffy blood groups, hemoglobin, and ceruloplasmin. A survey for congenital malformations and hereditary diseases was also carried out on this group. The ABO, Rhesus, MN and Duffy system frequencies varied significantly from the figures obtained for the Greek population. However, there is a characteristic similarity between various gypsy groups studied in other nations and the distribution of polymorphic traits in the Punjab region of India. Cystic fibrosis, renal tubular acidosis, 21‐hydroxylase deficiency, Holt‐Oram syndrome and homozygous (3‐tha‐lassemia were diagnosed within the gypsy group

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb02022.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Gene‐centromere distances can be estimated (i) by determining postreduction frequencies by means of ovarian teratomas and (ii) by analysis of genetic linkage between a gene locus and a structural chromosome polymorphism near the centromere. The two methods are compared under complete interference. It is shown that the teratoma method is at least twice as efficient as the recombination method. Two estimates of the map distance for a combination of both data types are derive

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb02023.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

The prevalence of squamous cell carcinoma of the skin in albinos reaches approximately 90 % in patients over 20 years of age in the vicinity of Enugu, Nigeria. Chromosome breaks and sister chromatid exchanges (SCE) were evaluated in tyrosinase‐positive oculocutaneous albinos and pigmented controls of Ibo extraction who were life‐long residents of Nigeria. No difference in the frequency of chromosomal breaks in 14 albinos compared to 6 pigmented controls, and no differences in the frequency of SCE in 9 albinos compared to 3 controls could be detected. Increased chromosomal abnormalities in lymphocytes do not appear to be associated with albinism or fulminating skin cancer present in albinos in the trop

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb02024.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Why the frequency of spontaneous abortions among monosomy X conceptuses is 98 % while the postnatal course of Turner syndrome is relatively benign has not been understood. One explanation could be that mosaicism for a euploid cell line confers viability and that those 2 % of 45, XO zygotes survivingin uterohave some degree of mosaicism. We thus reasoned that if the non‐mosaic 45, XO karyotype is lethal, a thorough study of living Turner syndrome patients might reveal a much higher frequency of mosaicism than the 30–40 % reported. Ten adult women with a45, XO leukocyte karyotype were investigated, looking at five tissue types from all three germ layers: buccal mucosa and hair from ectoderm, urinary epithelium from endoderm and ectoderm, and lymphocytes and skin fibroblasts from mesoderm. We were unable to confirm mosaicism in these patients, although in 2 out of 10 there was the suggestion of a small percentage of euploid cells in skin and blood karyoty

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb02025.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Serum‐trypsin‐inhibitory‐capacity (STIC) and ai‐antitrypsin (AAT) genotypes were evaluated in 83 twins and 112 paired parents‐of‐twins. An increased prevalence (17.0–21.9%) of intermediate AAT deficiency (STIC<0.95 units/ml) was detected in both of these groups as compared to a prevalence of 4.1 % in 1,841 healthy controls. PiS and PiZ molecular variants of AAT were also found more frequently in the twin and parent groups, but this was not statistically significant. Low levels of protease inhibition may enhance fertility and a tendency towards twinning, since proteolytic enzymes are involved in fertilization of ova by sperm and in gametogenesis. Increased fertility and twinning may be heterozygous advantages for A

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb02026.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Apolipoprotein E from human serum shows a genetic polymorphism determined by two autosomal codominant alleles, Apo En and Apo Ed. Homozygosity for the gene Apo Ed(phenotype Apo E‐D) results in primary dysbetalipoproteinemia, but only some individuals with this phenotype develop gross hyperlipidemia (hyperlipoproteinemia type III). Vertical transmission of dysbetalipoproteinemia represents pseudodominance due to the high frequency of the gene Apo Ed. Dysbetalipoproteinemia is already expressed in childhood.To assess the influence of other genes on the expression of hyperlipidemia in phenotype Apo E‐D, comparative studies were carried out in kindreds of hypercholesterolemic (group A) and normo‐ or hypocholesterolemic probands with dysbetalipoproteinemia (group B). This demonstrated the occurrence of familial (non‐type III) forms of hyperlipidemia in group A but not in group B kindreds. Distribution of lipoprotein pheno‐types in five of the group A kindreds was consistent with the occurrence of familial combined hyperlipidemia. Apo E phenotypes and hyperlipidemia segregated independently.It is concluded that primary dysbetalipoproteinemia is a frequent monogenic variant of lipoprotein metabolism, but not a disease. Coincidence in one individual of genes for this specific dyslipoproteinemia with any of the genes for monogenic or polygenic forms of familial hyperlipidemia results in hyperlipoproteinemia type III. Hence hyperlipoproteinemia type III is caused by at least two non‐allelic genes and is a polygen

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb02027.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

The two autosomal codominant alleles of the Apo E‐N/D polymorphism, Apo E and Apo E(1, have a considerable influence on plasma lipid levels and distribution in man.Serum cholesterol levels are highest in phenotype Apo E‐N, intermediate in phenotype Apo E‐ND, and low in phenotype Apo E‐D. Contrary VLDL‐cholesterol is highest in phenotype Apo E‐D, intermediate in heterozygotes, and lowest in phenotype Apo E‐N. Serum‐triglyceride, VLDL‐triglyceride and the ratio of VLDL‐cholesteroI/serum‐triglyceride are also intermediate in phenotype Apo E‐ND between the two opposite homozygous groups. 10 % of heterozygous Apo E‐ND subjects exhibited a β‐VLDL subfraction compared to 0.8 % in phenotype Apo E‐N and 100%in Apo E‐D.Hence the three phenotypic groups exhibit metabolic differencesin vivo, and the gene Apo E'l has a mild dyslipoproteincmic effect even in a single dose. The Apo E‐N/D polymorphism may therefore be a major influence on the occurrence of arteri

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb02028.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

A significantly increased incidence of heterochromatic chromosomal variants, particularly of Ai and Cy, has been found in a group of 120 patients with malignant or premalignant diseases. People presenting with such a kind of polymorphism usually have an increased chromosomal breakage rate. Genetically increased susceptibility to breaking agents may be the unifying concept explaining the increased incidence of heterochromatic variants found in couples with sterility or abortions, in karyotypically normal malformed or retarded children, and in patients suffering from different malignant or premalignant diseases. Chromosomal imbalance is probably the basis for initiation of malignancy whose development is influenced by many different factors.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb02029.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Dermal patterns in a group of Down's syndrome patients, a normal control population and a group of parents of Down's syndrome patients were studied in an attempt to identify an Index Score to be used in differentiating controls from parents of Down's syndrome children. Using only three patterns (simian crease, palmar hypothenar pattern and Cummins' Index), a parents' Index Score was established which correctly diagnosed 80.83 % of controls and 79.17 % of parents. The predictive value of this index and its interest in genetic counselling are discussed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb02030.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY