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

页码：188 / 191

页数：4

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