MULTIPLE ABNORMALITIES IN A CHILD WITH PARTIAL DUPLICATIONS OF 10P AND 13Q FROM A 3-1 SEGREGATION OF A MATERNAL T(10-13) TRANSLOCATION

被引：4
|
作者：
YIP, MY
WILLIAMS, J
GODDARD, A
CAMPBELL, P
LAMBERT, I
SMITHELLS, RW
机构：
[1] ST JAMES UNIV HOSP,REG CYTOGENET UNIT,LEEDS LS9 7TF,W YORKSHIRE,ENGLAND
[2] PRINCE WALES HOSP,DEPT MED GENET,SYDNEY,NSW,AUSTRALIA
[3] ROYAL HOSP WOMEN,NEONATAL UNIT,SYDNEY,AUSTRALIA
来源：
JOURNAL OF MEDICAL GENETICS | 1990年 / 27卷 / 03期
关键词：
D O I：
10.1136/jmg.27.3.188
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Partial duplications of 10p and 13q in association with partial deletions of other chromosome segments have been variously reported. We describe here a female child with multiple congenital abnormalities and combined partial duplications of 10p and 13q resulting from a 3:1 segregation of a maternal t(10;13(p13;q22). In comparing the phenotypic features of the two chromosome imbalances, the expression of features typical of partial duplication 10p appeared more pronounced.
引用
收藏
页码：188 / 191
页数：4
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