CRANIOSYNOSTOSIS IN AN INFANT WITH AN INTERSTITIAL DELETION OF 15Q [46,XY,DEL(15)(Q15Q22.1)]

被引：22

作者：

FUKUSHIMA, Y

WAKUI, K

NISHIDA, T

NISHIMOTO, H

机构：

[1] SAITAMA CHILDRENS MED CTR,DEPT CLIN LAB,IWATSUKI,SAITAMA 339,JAPAN

[2] SAITAMA CHILDRENS MED CTR,DIV NEUROSURG,IWATSUKI,SAITAMA 339,JAPAN

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 36卷 / 02期

关键词：

chromosome aberration; craniosynostosis; partial monosomy 15q; paternal origin;

D O I：

10.1002/ajmg.1320360214

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

An interstitial deletion of 15q [46,XY,del(15)(q15q22.1)] was found in a malformed infant with craniosynostosis. Although the parents had normal chrosomes, the study of heteromorphic markers of chromosome 15 showed that the deleted chromosome 15 was of paternal origin. The 2 previously reported cases with an interstitial deletion of the middle portion of 15q were not complicated with craniosynostosis, and their deleted region did not include 15q15 band. The deletion of chromosome band 15q15 might be responsible for craniosynostosis.

引用

页码：209 / 213

页数：5

共 16 条

[1]

AUTIO S, 1988, CLIN GENET, V34, P293

[2] PARENTAL ORIGIN OF DENOVO CHROMOSOME REARRANGEMENTS [J].