BLEPHAROPHIMOSIS SEQUENCE AND DENOVO BALANCED AUTOSOMAL TRANSLOCATION [46,XY,T(3-4)(Q23-P15.2)] - POSSIBLE ASSIGNMENT OF THE TRAIT TO 3Q23

被引：46
作者：
FUKUSHIMA, Y
WAKUI, K
NISHIDA, T
UEOKA, Y
机构：
[1] SAITAMA CHILDRENS MED CTR,DEPT CLIN LAB,IWATSUKI,SAITAMA 339,JAPAN
[2] SAITAMA CHILDRENS HOSP,DEPT OPHTHALMOL,IWATSUKI,SAITAMA 339,JAPAN
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 40卷 / 04期
关键词：
DENOVO 3Q/4P TRANSLOCATION; GENE LOCALIZATION; CLINICAL MANIFESTATIONS;
D O I：
10.1002/ajmg.1320400423
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report on a boy with the blepharophimosis sequence and de novo, apparently balanced reciprocal translocation between 3q23 and 4p15.2 [46,XY,t(3;4)(q23;p15.2)de novo]. Possible assignment of this autosomal dominant disorder is discussed. A 3q23 band is a more preferable gene locus of the blepharophimosis sequence, based on the comparison of clinical manifestations between 4p- and 3q-syndromes.
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页码：485 / 487
页数：3
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