RECURRENCE OF PALLISTER-HALL SYNDROME IN 2 SIBS

被引：23

作者：

THOMAS, HM

TODD, PJ

HEAF, D

FRYER, AE

机构：

[1] ROYAL LIVERPOOL CHILDRENS HOSP,RESP UNIT,LIVERPOOL,ENGLAND

[2] ROYAL LIVERPOOL CHILDRENS HOSP,CLIN GENET SERV,LIVERPOOL,ENGLAND

[3] ARROW PK HOSP,DEPT PAEDIAT,WIRRAL,MERSEYSIDE,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1994年 / 31卷 / 02期

关键词：

D O I：

10.1136/jmg.31.2.145

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：145 / 147

页数：3

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