A de novo reciprocal t(2;18) translocation with regular trisomy 21

被引：5
|
作者：
Cyrus, Cyril [1 ]
Kaur, Harpreet [2 ]
Koshy, Teena [2 ]
Thankanadar, Jegatheesan [3 ]
Nallathambi, Chandra [1 ]
机构：
[1] Univ Madras, Dept Genet, Madras 600113, Tamil Nadu, India
[2] Sri Ramachandra Univ, Dept Human Genet, Madras, Tamil Nadu, India
[3] Govt Hosp Women & Children, Inst Obstet & Gynecol, Madras, Tamil Nadu, India
来源：
GENETIC TESTING | 2007年 / 11卷 / 04期
关键词：
D O I：
10.1089/gte.2007.0045
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A 4-year-old girl with Down syndrome exhibited an autosomal translocation t(2; 18) in addition to trisomy 21. An evaluation of GTG- banded metaphases revealed the karyotype 47, XX, t(2; 18), + 21 that was confirmed by using fluorescent in situ hybridization (FISH) probes. This case represents a very rare coincidence of an autosomal aneuploidy and a structural rearrangement. Her parents showed a normal chromosome complement. The translocation must have been an apparently "balanced" one as the proband presented with typical features of Down syndrome alone. The mechanism of origin of this rearrangement along with a nondisjunctional error and its significance are discussed.
引用
收藏
页码：459 / 462
页数：4
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