Multiple congenital abnormalities and de novo t (3; 4) (p13; p14) translocation: Case report

被引：0
|
作者：
Bozaykut, Abdulkadir [1 ]
Seren, Lale Pulat [1 ]
Ipek, Ilke [1 ]
Sezer, Gonul [1 ]
Tunc, Nilufer [1 ]
机构：
[1] Zeynep Kamil Kadin & Cocuk Hastaliklan Egitim Ara, Istanbul, Turkey
来源：
MEDICAL JOURNAL OF BAKIRKOY | 2007年 / 3卷 / 01期
关键词：
Multiple congenital abnormalities; cytogenetic analysis; translocation;
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Chromosomal abnormalities account for a significant percentage of congenital malformations in the neonate. Here we report a male newborn that had cystic hygroma associated with dysmorphic features which were not accounted for a clinically recognizable dysmorphic syndrome. Cytogenetic analysis revealed a karyotype of 46, XY, t (3; 4) (p13; p14) translocation. Once the chromosome analysis is complete, not only the prognosis can be better defined, but the information acquired may also be used to provide risk estimates for chromosomal abnormalities in future pregnancies of the parents of the affected infant and for other relatives.
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页码：37 / 39
页数：3
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