ISSN:0148-7299    

DOI:10.1002/ajmg.1320070302

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

年代:1980

数据来源: WILEY

摘要:

AbstractGENFILES is a comprehensive computer information network to serve research, service, and administrative needs in medical genetics. Four major databases contain detailed information generated by the cytogenetics laboratory, the prenatal diagnosis program, the diagnostic and genetic counseling clinics, and the human cell culture facility. Unique aspects are the use of RAMIS, a commercial database management system, and of microprocessor computers as “intelligent” terminals with significant data‐handling capabilities. All databases are on‐line in a directly accessed large timesharing computer. The system, which has been designed, controlled, and maintained by regular genetics staff, is an easy to use, moderate‐cost tool well suited for use as a regional clinical genetics informati

ISSN:0148-7299    

DOI:10.1002/ajmg.1320070303

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

年代:1980

数据来源: WILEY

摘要:

AbstractMEDGEN, a clinical genetics information storage and retrieval system, facilitates the handling of medical records for the central genetics clinic and satellite clinics conducted by the University of California, San Francisco. The system is part of the GENFILES genetics network, which handles all of the genetics data generated by a comprehensive medical genetics center.The clinical data stored on each patient include 1) diagnoses, which utilize McKusick catalog numbers as well as our own diagnostic codes; 2) relevant medical, gestational, and pregnancy history; 3) clinical manifestations (functional and structural); 4) karyotype information through a crosslink to the cytogenetics file; 5) ethnic origin of the patients; 6) physical status and sex of the patient; 7) laboratory studies, including results of metabolic tests; and 8) any additional remarks deemed necessary for complete understanding. The date, staff member attending, and physical location of each visit also are recorded.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320070304

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

年代:1980

数据来源: WILEY

摘要:

AbstractThe computer database CHROMO is the cytogenetic branch of the GENFILES medical genetics information system. Complete cytogenetic laboratory data are maintained in a format that allows detailed searches of client records. Both the standard and extended Paris nomenclature are used.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320070305

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

年代:1980

数据来源: WILEY

摘要:

AbstractThe second case of virilism as a late manifestation of Bardet‐Biedl syndrome (BBS) is described, with endocrine and histological evaluation. Both cases manifested ovulatory cycles and developed virilism in adulthood. Elevated plasma testosterone and 17‐OH‐progesterone were not suppressed by dexamethasone but were suppressed by medroxyprogesterone acetate. Peripheral and ovarian venous blood obtained at the time of surgery demonstrated a marked gradient for testosterone in both ovaries and for progesterone in the ovary bearing the corpus luteum. Histological evaluation of the ovaries demonstrated bilateral ovarian stromal hyperplasia with focal hyperthecosis. Bilateral ovariectomy resulted in complete correction of the endocrine abnormality, although the established hirsutism remains a mark of previous androgen e

ISSN:0148-7299    

DOI:10.1002/ajmg.1320070306

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

年代:1980

数据来源: WILEY

摘要:

AbstractA sample of 223 families with at least one child with anencephaly and/or spina bifida was ascertained in Southern Poland, where the incidence of neural tube malformations is 0.92/1,000. The recurrence risk in proband's sibs was 3.4%. The calculated heritability (h2) was 76%, implying a substantial contribution of genetic factors to the cause of neural tube defects. Complex segregation analysis was applied in an attempt to discriminate between the hypothesis of a single locus and that of quasi‐continuity under multifactorial inheritance. The results excluded the hypothesis of dominant inheritance with full penetrance. The hypothesis of the two‐allele model (at a single locus) fit the data with the same degree of exactness; however, for all hypotheses the estimated penetrance was low, and the phenocopy frequency was high. Less accurate conformity was observed for the multifactorial hypothesis. In view of very low penetrance and high frequency of phenocopies in single locus hypotheses and the finding that empirical data gave better support to the multifactorial model, the differences in χ2values should not be viewed as sufficient to discriminate between single locus and multifactorial models. The recurrence risks, assessed in the complex segregation analysis, showed an increase together with the growing number (r) of affected children. For constant r the recurrence risks decreased in successive pregnancies. Although discrimination between the mendelian and multifactorial inheritance models was incomplete, the risk values obtained can be employed in genetic counse

ISSN:0148-7299    

DOI:10.1002/ajmg.1320070307

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

年代:1980

数据来源: WILEY

摘要:

AbstractIn a man with Fabry disease, basal plasma glycosphingolipid (GSL) levels were determined by high‐performance liquid chromatography (HPLC). A series of three alternate‐day plasma exchanges transiently lowered plasma ceramide trihexoside (CTH) to normal. A total of 70 μmoles of CTH were removed by eight plasma exchanges. If future studies show that pathologic tissue accumulations of CTH are reduced by plasma exchange, then long‐term repetitive plasma exchange could be used as treatment until enzyme replacement is pra

ISSN:0148-7299    

DOI:10.1002/ajmg.1320070308

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.1320070309

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.1320070310

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.1320070311

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

年代:1980

数据来源: WILEY