BLEPHAROPHIMOSIS SEQUENCE (BPES) AND MICROCEPHALY IN A GIRL WITH DEL(3) (Q22.2Q23) - A PUTATIVE GENE RESPONSIBLE FOR MICROCEPHALY CLOSE TO THE BPES GENE

被引:20
作者
ISHIKIRIYAMA, S [1 ]
GOTO, M [1 ]
机构
[1] CHIBA REHABIL CTR,DIV PEDIAT NEUROL,CHIBA,JAPAN
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 47卷 / 04期
关键词
INTERSTITIAL DELETION; 3Q23; BLEPHAROPHIMOSIS SEQUENCE (BPES); MICROCEPHALY; CONTIGUOUS GENE SYNDROME; HIGH RESOLUTION BANDING;
D O I
10.1002/ajmg.1320470411
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report on a girl with the blepharophimosis sequence (BPES), microcephaly of postnatal onset, mild developmental retardation, and a deletion: 46,XX,del(3) (q22.2q23) de novo. A gene for BPES is suspected to be located at 3q23. Almost all cases with interstitial deletions containing 3q23 have not only BPES but also microcephaly and developmental retardation, while those without deletions, including those with apparently balanced translocations, only have BPES. Thus, a putative gene responsible for microcephaly may exist close to BPES gene. BPES, microcephaly, developmental retardation, and primary amenorrhea might constitute a contiguous gene syndrome. (C) 1993 Wiley-Liss, Inc.
引用
收藏
页码:487 / 489
页数:3
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