A NEW CASE OF PARTIAL TRISOMY-19Q (Q13.2-]QTER) OWING TO AN UNUSUAL MATERNAL TRANSLOCATION

被引：17

作者：

VALERIO, D ^{[1
]}

LAVORGNA, F ^{[1
]}

SCALONA, M ^{[1
]}

CONTE, A ^{[1
]}

机构：

[1] OSPED RIZZOLI,DIV OSTETR & GINECOL,ISCHIA NAPOLI,ITALY

来源：

JOURNAL OF MEDICAL GENETICS | 1993年 / 30卷 / 08期

关键词：

D O I：

10.1136/jmg.30.8.697

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A new case of trisomy 19q13.2-->qter is described in a male child which was caused by a maternal balanced translocation (13;19)(p13;q13.2). The major clinical features detected in the patient included the following: facial dysmorphism, bilateral coloboma, narrow and hypoplastic nails, cardiac malformations (Fallot's tetralogy), genito-urinary and gastrointestinal anomalies, and agenesis of the corpus callosum. A comparison with other reported cases of partial trisomy 19q is presented. A hypothesis is proposed to account for the involvement of p13 regions of different acrocentrics in some cases of familial translocations involving a chromosome 19.

引用

页码：697 / 699

页数：3