DE-NOVO-INV-DEL(4) IN AN INFANT WITH THE WOLF-HIRSCHHORN SYNDROME

被引：0
|
作者：
SERVILLE, F
SAURA, R
BILLEAUD, C
GIRARD, S
CHOISET, A
LONGY, M
SANDLER, B
机构：
[1] GRP HOSP PELLEGRIN, SERV NEONATOL, F-33076 BORDEAUX, FRANCE
[2] HOP ST VINCENT PAUL, CYTOGENET LAB, F-75674 PARIS 14, FRANCE
来源：
ANNALES DE GENETIQUE | 1987年 / 30卷 / 03期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
An infant was found to have a de novo complex rearrangement of one chromosome 4. Her karyotype was interpreted as 46,XX,inv del(4)(pter::p16.3::q31.2 .fwdarw. p15.2::q31.2 .fwdarw. qter). Clinically she showed the features of the Wolf-Hirschhorn syndrome.
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页码：170 / 174
页数：5
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