ISSN:0148-7299    

DOI:10.1002/ajmg.1320060402

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1980

数据来源: WILEY

摘要:

AbstractThis is a report of two brothers, born within a year of each other, with a similar skeletal disorder of severe congenital metaphyseal involvement, mild rhizomelic shortness of upper limbs, and mild platyspondyly. Both died at three days of cardio‐respiratory insufficiency, but only one had ante‐mortem lab tests which showed low calcium, high phosphorus, and high alkaline phosphatase levels attributed to a renal defect. On autopsy this same infant was found to have pulmonary, renal and adrenal hemorrhage, and subendocardial myocarditis and myocardial necrosis. The pathogenetic relationship between these manifestations is presently unclear; however, since parents are normal and recently had an affected baby girl, it is presumed that this disorder is an autosomal recessive tr

ISSN:0148-7299    

DOI:10.1002/ajmg.1320060403

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1980

数据来源: WILEY

摘要:

AbstractA 16 1/2‐year‐old phenotypic female had primary amenorrhea, mild mental retardation, radiounar synostosis, and other minor anomalies. Chromosome constitution of leukocytes and skin fibroblasts was 48,XXXX. Plasma levels of gonadotropins were increased, and those of estrogens, decreased consistent with ovarian failure. Laparoscopy showed a small midline uterus, and 2 fallopian tubes, and fimbriae. Neither ovaries nor gonadal streaks were seen on either side. This patient appears to represent the first instance of 48,XXXX aneuploidy with documented absence of ovar

ISSN:0148-7299    

DOI:10.1002/ajmg.1320060404

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1980

数据来源: WILEY

摘要:

AbstractClinical and laboratory data, including polymorphic marker traits for linkage analysis, were collected from two large multigenerational families segregating for von Willebrand disease. A new approach to the identification of gene carriers in these families, combining pedigree segregation analysis with multivariate discriminant analysis, is applied. Whereas individually the clinical symptoms and the factor VIII related activities could not distinguish between hypotheses, it was possible to find a discriminant function showing consistency of the data with a dominant gene hypothesis, but not with a recessive gene or an environmental hypothesis. This function is estimated to lead to 3.2% and 5.5% minimum misclassification of the genotypes, respectively, in the two families. The discriminant function could be used for other families, but is should be calibrated for the specific population in which it is used.Among the markers investigated, GPT is the most likely to be linked to von Willbrand's disease, with a maximum lod score of about unity at 15% recombination.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320060405

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1980

数据来源: WILEY

摘要:

AbstractWe have investigated a family with one child affected with congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase deficiency. Prenatal determination of 17‐α hydroxyprogesterone (17OHP) in amniotic fluid (AF) and HLA typing of amniotic fibroblasts from a pregnancy at risk showed that the fetus was not affected.A healthy cousin with HLA haplotypes identical to those of the proposita (only one being identical by descent) had a normal plasma level of 17OHP.The prenatal diagnosis of a fetus affected with 21‐hydroxylase deficiency CAH may be established by the determination of 17OHP in AF. This is a relatively quick procedure that can be confirmed by the HLA genotype, and is mandatory in families with a parent homozygous for an HLA haplotype and in certain recombinant haplotypes in the

ISSN:0148-7299    

DOI:10.1002/ajmg.1320060406

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1980

数据来源: WILEY

摘要:

AbstractWe report a family in which a mentally retarded, proportionately dwarfed girl had a child from a presumably incestuous mating that had the Ellis van‐Creveld syndrome, presumed autosomal recessive hydrocephalus (Dandy‐Walker type), and homozygosity for an extremely long 9qh+ chromosomal marker.The mentally retarded mother had normal birth weight, unusual facial appearance, and virtual absence of secondary sexual hair; she developed severe hypoglycemia during pregnancy. Her parents were first cousins, and she may have a previously unreported autosomal recessive syndr

ISSN:0148-7299    

DOI:10.1002/ajmg.1320060407

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1980

数据来源: WILEY

摘要:

AbstractThe authors report the combination of achalasia, microcephaly, and mental retardation in three surviving sisters and similar manifestations in a brother who died after recurrent vomiting and respiratory infections. The achalasia in the females was relieved with an operation. There was no demonstrable chromosomal abnormality. In this family achalasia, microcephaly, and mental retardation occurred together as an apparent autosomal recessive syndrome.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320060408

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1980

数据来源: WILEY

摘要:

AbstractBenefit‐to‐cost analysis (using standard economic methods) and the predictive tools of genetics are important in the assessment of genetic services for high burden, single gene disorders. We have studied 6 generations of a 167‐member, stable, North Georgia kindred at risk for X‐linked recessive humeroperoneal neuromuscular disease with cardiac conduction defects. This disorder began in affected males in the teen years, with total disability expected by the 3rd decade and death by age 50. Using known fecundity rates and Mendelian probabilities, 26.6 heterozygous females and 9.4 hemizygous affected males were expected in the currently developing generation. We compared the compensatory costs for families with affected males against costs of genetic intervention for this disorder. All costs and benefits were discounted to present values at 6% and 10% and a benefit‐to‐cost ratio was derived. At a 6% discount rate the benefit‐to‐cost ratio was 21 to 1 while at a 10% discount rate the benefit‐to‐cost ratio was 14 to 1.We conclude that although this is an unusual X‐linked muscular dystrophy, it constitutes a prototypic public and private expense which is largely preventable. The method of cost accounting within pedigrees has wide applicability. The results reemphasize the economic benefit of comprehensive public health programs in genetics, particularly in areas with stable,

ISSN:0148-7299    

DOI:10.1002/ajmg.1320060409

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1980

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320060410

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1980

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320060411

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1980

数据来源: WILEY