RECOMBINANT CHROMOSOME-18 RESULTING FROM A MATERNAL PERICENTRIC-INVERSION

被引：15
|
作者：
AYUKAWA, H
TSUKAHARA, M
FUKUDA, M
KONDOH, O
机构：
[1] Department of Pediatrics, Yamaguchi Univ. School of Medicine, Ube
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 50卷 / 04期
关键词：
DUPLICATION-DEFICIENCY OF CHROMOSOME 18; PARTIAL TRISOMY 18Q SYNDROME; PERICENTRIC INVERSION; REVIEW OF LITERATURE;
D O I：
10.1002/ajmg.1320500405
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report on a newborn girl with duplication of 18q12.2--> 18qter and deficiency of 18p11.2--> 18pter which resulted from meiotic recombination of the maternal pericentric inversion, inv(18)(p11.2q12.2). Her clinical manifestations were compatible with those of partial trisomy 18q syndrome. We review the previously reported 9 cases in 8 families of rec(l8) resulting from recombination of a parental pericentric inversion. (C) 1994 Wiley-Liss, Inc.
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收藏
页码：323 / 325
页数：3
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