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Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome
Author(s) -
Loan D. M.,
Belengeanu V.,
Maximilian C.,
Fryns J. P.
Publication year - 1993
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1993.tb03822.x
Subject(s) - penetrance , arthrogryposis , camptodactyly , expressivity , genetics , inheritance (genetic algorithm) , biology , phenotype , gene
Ioan DM, Belengeanu V. Maximilian C, Fryns JP. Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome. Clin Genet 1993: 43: 300–302. © Munksgaard, 1993 A family is reported in which camptodactyly, club foot, pectus excavatum and undescended testes are transmitted as an autosomal dominant with reduced penetrance and variable expressivity, affecting 13 members through five generations. Penetrance is more reduced in females than in males and asymptomatic carriers are always females. Similar findings were previously described in two other families reported by Gordon et al. (1962) and Halal & Fraser (1979).