PARTIAL DUPLICATION OF 3Q (Q25.1-]Q26.1) WITHOUT THE BRACHMANN-DELANGE PHENOTYPE

被引：19

作者：

LOPEZRANGEL, E

DILL, FJ

HRYNCHAK, MA

VANALLEN, MI

机构：

[1] UNIV HOSP BRITISH COLUMBIA,DEPT MED GENET,SHAUGHNESSY SITE 4500 OAK ST,VANCOUVER V6H 3N1,BC,CANADA

[2] UNIV BRITISH COLUMBIA,DEPT MED GENET,VANCOUVER V6T 1W5,BC,CANADA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 47卷 / 07期

关键词：

BRACHMANN-DELANGE; MENTAL RETARDATION; DUP3(Q) SYNDROME;

D O I：

10.1002/ajmg.1320470727

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Partial duplications of chromosome 3 have previously been reported to have phenotypic characteristics similar to Brachmann-de Lange syndrome (BDLS). We present the case of a 13-year-old girl with an apparent duplication in the 3q25.1-->q26.1 region but none of the manifestations commonly seen in BDLS. The chromosome 3 duplication was confirmed with a FISH painting probe of the involved region. These results suggest that the region critical for Brachmann-de Lange syndrome is not within the duplicated region of 3q25.1-->q26.1. (C) 1993 Wiley-Liss, Inc.

引用

页码：1068 / 1071

页数：4

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