A gene map of congenital malformations

Congenital malformations frequently arise sporadically, making it difficult to determine whether or not they are genetic in aetiology, let alone which gene(s) may be involved. Nevertheless, rapid progress has been made over recent years in the localisation and identification of gene mutations in spe...

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Bibliographic Details
Published in:Journal of medical genetics 1994-07, Vol.31 (7), p.507-517
Main Authors: Wilkie, A O, Amberger, J S, McKusick, V A
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chromosome Aberrations - genetics
Chromosome Disorders
Chromosome Mapping
Classical genetics, quantitative genetics, hybrids
Congenital Abnormalities - genetics
congenital defects
Fundamental and applied biological sciences. Psychology
Genetics of eukaryotes. Biological and molecular evolution
Human
Humans
man
Metabolism, Inborn Errors - genetics
reviews
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Summary:Congenital malformations frequently arise sporadically, making it difficult to determine whether or not they are genetic in aetiology, let alone which gene(s) may be involved. Nevertheless, rapid progress has been made over recent years in the localisation and identification of gene mutations in specific malformations. This review draws from Mendelian inheritance in man (Johns Hopkins University Press, 11th ed, 1994) and the online version (OMIM) to catalogue 139 loci (including 65 specifically identified genes) implicated in congenital malformations. Some of the most interesting recent developments are discussed.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.31.7.507