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Cleft palate: A genetic and epidemiologic investigation
Author(s) -
Shields Edward D.,
Bixler David,
FoghAndersen Poul
Publication year - 1981
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.1399-0004.1981.tb01800.x
Subject(s) - proband , danish , genetics , locus (genetics) , genetic heterogeneity , etiology , biology , phenotype , medicine , mutation , gene , linguistics , philosophy
An examination of kindred histories of 561 Danish probands who have non‐syndromic CP has indicated that neither a multifactorial‐threshold model nor a single major locus model is completely compatible with the data. This suggests etiologic heterogeneity for CP, which was tested with kindred data. As recommended by Smith (1976), an attempt to define partially this heterogeneity within the CP phenotype was undertaken by grouping and comparing the kindred data. It is both reasonable and heuristic to propose that CP, as defined in this investigation, is composed of three groups: (1) Syndromic CP; (2) Familial CP, which appears to have an autosomal dominant component to its etiology, and (3) Non‐familial CP which, by demonstrating an increasing frequency of CP and a maternal age effect, appears to be related to environmental factors which may cause CP or other malformations.