CONOTRUNCAL ANOMALY FACE SYNDROME IS ASSOCIATED WITH A DELETION WITHIN CHROMOSOME-22Q11

被引：218

作者：

BURN, J

TAKAO, A

WILSON, D

CROSS, I

MOMMA, K

WADEY, R

SCAMBLER, P

GOODSHIP, J

机构：

[1] TOKYO WOMENS MED COLL,HEART INST JAPAN,TOKYO 162,JAPAN

[2] INST CHILD HLTH,MOLEC MED UNIT,LONDON WC1N 1EH,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1993年 / 30卷 / 10期

关键词：

D O I：

10.1136/jmg.30.10.822

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The conotruncal anomaly face syndrome was described in a Japanese publication in 1976 and comprises dysmorphic facial appearance and outflow tract defects of the heart. The authors subsequently noted similarities to Shprintzen syndrome and DiGeorge syndrome. Chromosome analysis in five cases did not show a deletion at high resolution, but fluorescent in situ hybridisation using probe DO832 showed a deletion within chromosome 22q11 in all cases.

引用

页码：822 / 824

页数：3

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