A COMPLEX CHROMOSOME REARRANGEMENT WITH 10 BREAKPOINTS - TENTATIVE ASSIGNMENT OF THE LOCUS FOR WILLIAMS SYNDROME TO 4Q33-]Q35.1

被引：38

作者：

TUPLER, R

MARASCHIO, P

GERARDO, A

MAINIERI, R

LANZI, G

TIEPOLO, L

机构：

[1] UNIV PAVIA,CP 217,I-27100 PAVIA,ITALY

[2] UNIV PAVIA,FDN IST NEUROL C MONDINO,DIV NEUROPSICHIAT INFANTILE,I-27100 PAVIA,ITALY

来源：

JOURNAL OF MEDICAL GENETICS | 1992年 / 29卷 / 04期

关键词：

D O I：

10.1136/jmg.29.4.253

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

An unbalanced complex chromosome rearrangement with 10 breakpoints resulting in four derivative chromosomes (1, 2, 4, and 11) was found in a girl with severe phenotypic abnormalities, many of which are characteristic of Williams syndrome. The patient was monosomic for the region 4q33 --> q35.1 and thus the mapping of the syndrome could tentatively be restricted to this region.

引用

页码：253 / 255

页数：3

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