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.

引用

页码：323 / 325

页数：3

共 8 条

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