Developmental field defects: Coming together of associations and sequences during blastogenesis

被引：13

作者：

Hersh, JH

Angle, B

Fox, TL

Barth, RF

Bendon, RW

Gowans, G

机构：

[1] Univ Louisville, Dept Pediat, Weisskopf Ctr Evaluat Children, Louisville, KY 40292 USA

[2] Columbus Childrens Hosp, Dept Pathol, Columbus, OH USA

[3] Ohio State Univ, Dept Pathol, Columbus, OH 43210 USA

[4] Kosair Childrens Hosp, Louisville, KY USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 2002年 / 110卷 / 04期

关键词：

developmental field defects; blastogenesis; holoprosencephaly;

D O I：

10.1002/ajmg.10429

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on two patients with an unusual combination of multiple congenital anomalies including holoprosencephaly, encephalocele, and additional defects commonly observed in the VACTERL and schisis "associations." One of the infants had a chromosome abnormality characterized by partial duplication and deletion of chromosome 18. VACTERL association was characterized recently as a primary developmental field defect (DFD) [Martinez-Frias et al., 1998: Am J Med Genet 76:291-296]. In some cases, sequences may also represent uncomplicated DFDs. We suggest that findings in both of these cases represent abnormalities of blastogenesis involving the primary field resulting in holoprosencephaly and VACTERL and schisis anomalies, and show that similar primary DFDs are causally heterogeneous. (C) 2002 Wiley-Liss, Inc.

引用

页码：320 / 323

页数：4