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.

引用

页码：485 / 487

页数：3

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