DISTAL 12P DELETION IN A STILLBORN INFANT

被引：19

作者：

BARONCINI, A

AVELLINI, C

NERI, C

FORABOSCO, A

机构：

[1] UNIV MODENA,CATTEDRA ISTOL & EMBRIOL GEN,POLICLIN VIA POZZO 71,I-41100 MODENA,ITALY

[2] UNIV IMOLA,MATERNAL & CHILD HLTH SERV,IMOLA,ITALY

[3] UNIV IMOLA,DEPT ANAT PATHOL,IMOLA,ITALY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 36卷 / 03期

关键词：

chromosome; 12; del (12p); multiple congenital anomalies/mental retardation syndrome; stillbirth;

D O I：

10.1002/ajmg.1320360324

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A stillborn female with a 'de novo' deletion of band 12p13 is described. Her main clinical manifestations are intrauterine growth retardation, unilateral cleft lip, protruding tongue, and small, low set, and posteriorly angulated ears. Comparison of this case with 4 previous reported patients with an isolated distal del (12p) fails to show significant common phenotypic characteristics.

引用

页码：358 / 360

页数：3

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