Anencephaly with holoprosencephalic facies due to ring chromosome 18

被引：7

作者：

Bird, LM

Pretorius, DH

Mendoza, AE

Jones, MC

机构：

[1] UNIV CALIF SAN DIEGO,DEPT PEDIAT,LA JOLLA,CA 92093

[2] SHARP & CHILDRENS PRENATAL DIAGNOST CTR,SAN DIEGO,CA

[3] UNIV CALIF SAN DIEGO,DEPT RADIOL,SAN DIEGO,CA 92103

[4] SHARP MEM HOSP & REHABIL CTR,DEPT PATHOL,SAN DIEGO,CA

来源：

CLINICAL DYSMORPHOLOGY | 1997年 / 6卷 / 04期

关键词：

anencephaly; holoprosencephaly; holoprosencephalic facies; ring chromosome 18; three-dimensional ultrasound;

D O I：

10.1097/00019605-199710000-00009

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

An anencephalic infant with holoprosencephalic facies and ring chromosome 18 [r(18)] is reported with review of the pertinent literature. Although the association of anencephaly and holoprosencephalic facies is well established this is the first instance of an accompanying karyotypic abnormality. Review of other r(18) cases suggests that this is not a coincidental finding. Karyotype analysis appears warranted in cases of anencephaly with holoprosencephalic facies.

引用

页码：351 / 358

页数：8

共 70 条

[1] GROWTH-HORMONE, SUSPECTED GONADOTROPIN-DEFICIENCY, AND RING-18 CHROMOSOME [J].