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.
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收藏
页码：237 / 241
页数：5
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