一个家族中的临床无眼球症
Clinical anophthalmos in a family.
作者信息
Sensi A, Incorvaia C, Sebastiani A, Calzolari E
出版信息
Clin Genet. 1987 Sep;32(3):156-9. doi: 10.1111/j.1399-0004.1987.tb03346.x.
Abstract
Monolateral or bilateral anophthalmos recurring in the absence of other associated defects in six members of a family is reported. The malformation appears to be inherited as a dominant (autosomal or X-linked) trait with incomplete penetrance. Implications for genetic counselling are briefly discussed.
摘要
据报道，一个家族中有六名成员出现单侧或双侧无眼畸形，且无其他相关缺陷。这种畸形似乎以显性（常染色体或X连锁）性状遗传，外显率不完全。简要讨论了其对遗传咨询的意义。
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