Weintraub D M, Baum J L, Pashayan H M
Cleft Palate J. 1975 Jul;12:323-9.
Three members of a family present definite features of the oculodentodigital (ODD) dysplasia and one presents only a few features. The mother shows no clinical evidence of the syndrome but does have an isolated cleft of the palate. The syndrome is compatible with Mendelian autosomal dominant inheritance with father-to-son transmission. The variable expression of the gene in the three affected members is clearly demonstrable.
一个家庭的三名成员表现出明确的眼牙指(ODD)发育异常特征,一名成员仅表现出少数特征。母亲没有该综合征的临床证据,但有孤立的腭裂。该综合征符合孟德尔常染色体显性遗传,可由父亲传给儿子。该基因在三名受影响成员中的可变表达清晰可证。