摘要:

A patient with the lobster claw defect, ectodermal defect, and tear duct and renal anomalies is described. An argument is presented for grouping this patient with other patients with lobster claw defect, ectodermal defects and tear duct anomalies who also have cleft lip‐palate and are classified as having the EEC syndro

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01162.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

A means of reducing the time interval between amniocentesis and biochemical analysis for the prenatal diagnosis of biochemical diseases is presented. Fibroblasts from nomal individuals, patients with Lesch‐Nyhan syndrome and patients with Tay‐Sachs disease, and normal amniotic fluid cells, were grown in isolation in MicroTest II tissue culture plates. Hypoxanthine‐guanine phosphoribosyl transferase (HGPRTase) and hexosaminidase A were studied in independently derived colonies arising after a median culture period of 14 days. Colony six ranged from 2,000 to 8,000 cells. HGPRTase activity, expressed as the ratio of hypoxanthine‐C14 to adenine‐113 uptake, was assayed using differential scintillation spectrometry. Hexosaminidase A was investigated by micro‐electrophoresis. Discrimination of enzyme deficient from non‐deficient colonies was accomplished in each case and both enzymes were detectable in amniotic fluid cell colonies. The potential of the method for prenatal diagnosis of the two diseases studied and of biochemical diseases in general

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01163.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

To confirm the clinical diagnosis of Down's syndrome by the evaluation of dermal patterns, methods of scoring were introduced by Borgaonkar and his co‐workers. In two preceding papers we demonstrated the applicability of these techniques for a correct diagnosis of Dutch Down's syndrome patients. As these methods require the rather elaborate analysis of a large number of dermal features, the present paper proposes a way of reducing the number of pattern areas to be analyzed while maintaining the approach and accuracy of the method

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01164.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

Cultured fibroblast cells from four patients with mucolipidosis III (pseudo‐Hurler polydystrophy) were examined by phase contrast, dark‐field and electron microscopy. Both phase and dark‐field microscopy revealed striking abnormalities in three of these patients which were indistinguishable from those seen in mucolipidosis II (I‐cell disease). While electron microscopy indicated that the structural alterations found in both mucolipidosis II and III may he due to an increased storage of material within the cytoplasm, clear differences in the ultrastructural morphology were detectable between the two di

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01165.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

Two series of 88 and 53 patients with Down's syndrome and 91 other mentally retarded patients were investigated for various blood, serum and enzyme groups. No association of trisomy 21 and the following systems and factors was found: ABO, Rh(D), MNSs, K, P, Fy(a, b), Jk(a, b), Gm, (1,2), InV(1), Ag (x), Lp(a), Tf, C3, acP, PGM1and GPT. None of these markers was associated with age or the presence or absence of the Au/SH antigen in Down's syndrome or other mentally handicapped patients. Gm(+1) individuals were more frequent among Down and other mentally retarded patients than in normal controls. A decrease ofHp2 individuals with age was found in the first, but not in the second group of Down patients. A possible association of Au/SH positive and tic 1‐1 individuals was found in the first. but not confirmed in the second series of patients with Down's syndrome. The control group of other mentally retarded patients exhibited a helerogeneity according to sex and age in the distribution of Gc phenotype

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01166.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

It is confirmed that “Xh” is a quantitative property of human serum. The hypothesis that “Xh” is primarily sex‐influenced is not supported in patients with trisomy 21. Patients with Down's syndrome generally have higher concentrations of “Xh” antigen than do other mentally retarded patients. The frequency of Xh positive reactions in patients with Down's syndrome appears to be

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01167.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

A 26‐year‐old patient with female phenotype and the karyotype 46, x, i (Yq) is described. She had no breast, and a rudimentary uterus and streak gonads were present. Apart from a rather deep voice, no signs of masculinization were observed, nor did she display any of the stigmata usually associated with Turner's syndrome. The Yq chromosome was identified conclusively by the Giemsa C‐banding technique. The function of the Y chromosome is discussed briefly, and it is concluded that the factors determining or regulating somatic male differentiation must be located in the short arm of the Y chrom

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01168.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01169.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

The case of a baby girl with severe manifestations of the Holt‐Oram syndrome is described. She had a complete a‐v canal defect, and only a stump of upper limb tissue on the left side. Defects as severe as these have not before been reported in the Holt‐Oram syndrome. Three relatives were affected to a very much lesser extent. Some comments are made on the Holt‐Oram syndrome and on the nature of the gene which ca

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01170.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

A prevalence study of chromosome abnormalities in a Danish male population of 3,840 conscripts showed a total prevalence for chromosome abnormalities of 4.6Y per 1,000. Only males with small testes, males with a stature>181 cm and mentally retarded males were examined. The prevalence can thus only be expected to be complete for sex chromosome abnormalities and chromosome abnormalities in persons with a mental retardation.The prevalence of males with 47, XXY was 0.78 per 1,000 and males with 47, XYY as well as males with 47, XY, f21 were round in 1.30 per 1,000.The prevalence of autosomal marker chromosomes was 5.4 per 1,000, and the prevalence of large Y was 3.9%.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01171.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY