Antenatal diagnosis of deletion chromosome 11 (q23-qter) (Jacobsen syndrome)

被引：5

作者：

Foley, Patricia

McAuliffe, Fionnuala

Mullarkey, Marice

Reardon, William ^{[1
]}

机构：

[1] Our Ladys Hosp Sick Children, Natl Res Ctr Med Genet, Dublin 12, Ireland

[2] Univ Coll Dublin, Natl Matern Hosp, Fetal Med Unit, Dublin 2, Ireland

来源：

CLINICAL DYSMORPHOLOGY | 2007年 / 16卷 / 03期

关键词：

deletion chromosome 11 (q23-qter); Jacobsen syndrome; trigonocephaly;

D O I：

10.1097/MCD.0b013e3281e668bf

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A case of Jacobsen syndrome, suspected antenatally on the grounds of trigonocephaly and hypoplastic left heart syndrome, is presented. Clinicians are reminded that a hypoplastic left heart should not be assumed to be an isolated malformation and that a careful search for associated malformations can facilitate the recognition of an underlying genetic syndrome.

引用

收藏

页码：177 / 179

页数：3

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