TENTATIVE ASSIGNMENT OF A LOCUS FOR RUBINSTEIN-TAYBI SYNDROME TO 16P13.3 BY A DENOVO RECIPROCAL TRANSLOCATION, T(7,16)(Q34,P13.3)

被引：32

作者：

TOMMERUP, N

VANDERHAGEN, CB

HEIBERG, A

机构：

[1] ULLEVAL HOSP, DEPT MED GENET, OSLO 1, NORWAY

[2] UNIV OSLO, INST MED GENET, OSLO 3, NORWAY

[3] FRAMBU HLTH CTR, SIGGERUD, DENMARK

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 44卷 / 02期

关键词：

CHROMOSOME-16; MENDELIAN CYTOGENETICS; JUVENILE RHEUMATOID ARTHRITIS; SUBMICROSCOPIC DELETION; THUMB DEVELOPMENT;

D O I：

10.1002/ajmg.1320440223

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

During a systematic chromosomal survey of 7 unrelated patients with Rubinstein-Taybi syndrome, an apparently balanced de novo reciprocal translocation, t(7;16)(q34;p13.3), was detected in an affected boy. The involvement of the region 16p13.3 coincides with the position of one of the breakpoints in another de novo reciprocal translocation associated with Rubinstein-Taybi syndrome, suggesting that a locus for this syndrome maps to 16p13.3.

引用

页码：237 / 241

页数：5

共 23 条

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