两例同胞患帕利斯特-霍尔综合征复发。
Recurrence of Pallister-Hall syndrome in two sibs.
作者信息
Thomas H M, Todd P J, Heaf D, Fryer A E
机构信息
Respiratory Unit, Royal Liverpool Children's Hospital, Alder Hey, UK.
出版信息
J Med Genet. 1994 Feb;31(2):145-7. doi: 10.1136/jmg.31.2.145.
Abstract
We report the first definite sib recurrence of Pallister-Hall syndrome in a family without a cytogenetically visible chromosome abnormality. The father of these two sibs was born with nearly identical digital abnormalities and could represent either mild expression or gonosomal mosaicism for a dominant gene.
摘要
我们报道了在一个没有细胞遗传学可见染色体异常的家族中首次明确出现的帕利斯特-霍尔综合征同胞复发情况。这两个同胞的父亲出生时伴有几乎相同的手指异常，可能代表显性基因的轻度表达或性染色体镶嵌现象。
Zotero 插件