DE NOVO DUPLICATION OF CHROMOSOME 7 (q21.1-q32); CASE REPORT AND REVIEW OF THE LITERATURE

被引：0
|
作者：
Nasiri, F. [1 ]
Mahjoubi, F. [1 ,2 ]
Babamohammadi, G. [1 ]
机构：
[1] Blood Transfus Org Res Ctr, Tehran, Iran
[2] NIGEB, Dept Clin Genet, Tehran, Iran
来源：
BALKAN JOURNAL OF MEDICAL GENETICS | 2010年 / 13卷 / 01期
关键词：
Partial duplication of chromosome 7q; PARTIAL TRISOMY; 7Q;
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Cytogenetic analysis of a 1-year-old boy with multiple congenital anomalies revealed partial duplication of the chromosome 7q21.2-q32 band region. His main features included: frontal bossing, small jaw, low-set ears, deep-set eyes, strabismus, drooping left upper eyelid, widely-spaced eyes, short nose, long philtrum, down-curved upper lip, camptodactyly and hypotonia.
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页码：35 / 37
页数：3
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