ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00196.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Finger‐ and palmar prints of hemi‐ and heterozygote fragile X‐patients with mental retardation (10 males and 5 females) were compared to dermatoglyphic findings in 20 mentally retarded patients (10 males and 10 females) without fragile X and to 200 healthy unrelated persons (100 males and 100 females).Characteristic whorls and double‐loops with high ridge‐counts on finger‐tips and a pronounced transversal course of palmar ridges were restricted to males with fragile X. Female carriers of fragile X showed, corresponding to male patients, some abnormalities of the digital‐and palmar ridge‐pattern. Contrary to males, in carriers as well as in mentally retarded females without fragile X, fingerprints with low ridge‐counts were found.Common to all mentally retarded patients, but more pronounced in males with fragile X, abnormal palmar creases and hand‐measurements were observed. These findings probably are related to prenatal retarded growth of the length of the palma and o

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00197.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Though frequently noted, orofacial anomalies in poly X syndromes have been seldom reviewed. In a study of patients with an X chromosome aneuploidy (XXXXX, XXXX, XXXXY, XXX Y) the following facial and dental defects were found to be characteristic features of these syndromes: mainly bifid uvula and macroglossia, enamel defects, dental taurodontism and abnormal roots. These observations are discussed in the light of the possible role of X‐linked gene

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00198.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

The recessive hemochromatosis gene is both linked to the HLA region on chromosome 6 and nonrandomly associated with certain HLA alleles. The use of linked HLA markers to trace known hemochromatosis genes within a family is well known, but using the population associations to detect unsuspected disease genes has not been fully appreciated. Thus, while HLA typing has been utilized to detect asymptomatic affected siblings, it has not been applied to other relatives. We propose a method in which Bayes' rule is used to calculate the probability that designated HLA marker haplotypes, brought into the family by spouses, have attendant hemochromatosis genes. TheA3, B14andA3, B7haplotypes are such high risk markers. When these haplotypes are inherited from the unaffected parent, the offspring of an individual with hemochromatosis is at marked increased risk for the disease. When A3 and B14 are absent from the HLA marker haplotype, however, the risk of having a hemochromatosis gene is less than that for the general population. This approach should be helpful in identifying family members at a higher risk for developing the disease and who may then undergo appropriate periodic screening.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00199.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

The human “low serum IgD phenotype” was studied by simultaneous Gm typing and IgD immunoassay of several populations. An association between Gm (f+b +) haplotype and low human IgD was confirmed and extended to the “low serum IgD phenotype” ‐ as defined from population distribution and genetic studies by Dunnette et al. 1978. Further, it was shown that Black American sera determined by Gm haplotype, had a similar percentage of “low serum IgD phenotype” samples (16%) although they lacked the “associated” Gm(f+b +) haplotype of White American samples. Sardinian sera showed a low incidence of the “low serum IgD phenotype” which was not correlated with Gm haplotype distribution. Familial aggregation of the “low serum IgD phenotype” was observed. No association was found between “low serum IgD phenotype” and serum IgE values. Age related abiotrophy of IgD could not be attributed to selective survival of “l

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00200.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

An interactive system for semiautomated chromosome analysis, consisting of a high‐speed image processor with light‐pen, TV monitor and key‐board interfaced to a microscope with motorized scanning stage and video‐camera and to a hard‐copy printer, has been clinically tested for twenty consecutive working days.Metaphase search takes place over night. Identified metaphases are ranked automatically according to their suitability for analysis. Less than every second metaphase found cannot be either counted or analysed.164 samples were analysed. Only one was not completed. Two numerical and two structural abnormalities were identified and clinical consequences taken.Average time per completed analysis (10 counts, four karyotypes) were 37.5 min (28–84). Average time varied between technicians. In another test including 120 metaphases and 40 karyotypes average time for counting the chromosomes of a metaphase was 37 sec. (28–48), and average time for producing one karyotype, including a hard‐copy was 4 min 30 sec (3 min 43 sec‐5 min 54 sec). Number of manual interactions was 8 (2–17) and 36 (25–61), respectively.Although improvements are possible, the system is able to at least double the output of four cy

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00201.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Four different balanced X/autosome translocations: 46,X,t(X;9)(pll;ql3); 46,X,t(X;I2) (pll;ql2); 46,X,t(X;15)(ql2;pll) and 46,X,t(X;19)(q26;pl2) are described in four female patients. The effect of X/autosome translocations on physical and sexual development of these women and their offspring is discussed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00202.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Branched chain α‐ketoacid dehydrogenase (BCKAD) deficiency, or maple syrup urine disease (MSUD), can be categorized as classical, intermediate, intermittent or thiamine responsive, based on generally concordantin vitroBCKAD activity and severity of phenotype. We present clinical and enzymatic data on a boy with intermediate maple syrup urine disease, and suggest that he represents a novel category of mutation. He presented at age 10 months in ketoacidotic coma, with a history of irritability, poor feeding and growth and developmental delay. Branched chain amino acid restriction effected normal growth and developmental parameters by age 42 months. In contrast to previous patients with intermediate MSUD, his fibroblasts and fibroblast extracts failed to decarboxylate [1‐14C]‐α‐ketoisovalerate (KIV). The defect is not in mitochondrial transport of substrate, but rather in the catalytic activity of the E1component of the BCKAD. Disrupted cells of the proband exhibited negligible BCKAD activity over a wide range of keto acid substrate concentrations, irrespective of the presence of added thiamine pyrophosphate (TPP). These results differ from the sigmoidal kinetics observed using classical MSUD extracts, and the hyperbolic kinetics with control preparations under the same assay conditions. We propose that the structurally altered enzyme possesses reduced but not negligible activityin vivo,and exists as an unstable complexin vitrounder assay conditions used, even in the presence of

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00203.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

We describe here a female infant, exhibiting lethal short‐limbed dwarfism. The condition superficially resembled achondrogenesis. However, unlike achondrogenesis there was an associated severe spondylocostal dysostosis and major non‐skeletal anomalies, particularly a cerebellar Dandy‐Walker cyst, cardiovascular and urogenital malformations. The chondro‐osseous morphology was nonspecific. The case is believed to be unique. It is therefore suggested that this constellation of anomalies constitutes a “new” lethal syndrome, different from the delineated chondr

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00204.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00205.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY