Recombination of a maternal pericentric inversion results in 22q13 deletion syndrome

被引：4
|
作者：
Tagaya, Mitsuhiko [1 ]
Mizuno, Seiji [3 ]
Hayakawa, Masahiro [2 ]
Yokotsuka, Taro [1 ]
Shimizu, Satoko [1 ]
Fujimaki, Hidehiko [1 ]
机构：
[1] Toyota Mem Hosp, Dept Neonatol, Aichi 4718513, Japan
[2] Nagoya Univ Hosp, Matern & Perinatal Care Ctr, Nagoya, Aichi, Japan
[3] Cent Hosp, Aichi Human Serv Ctr, Dept Pediat, Aichi, Japan
来源：
CLINICAL DYSMORPHOLOGY | 2008年 / 17卷 / 01期
关键词：
chromosome; 22; pericentric inversion; recombinant chromosome; 22q13 deletion syndrome;
D O I：
10.1097/MCD.0b013e3281c1c81d
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We describe a 10-month-old boy with 22q13 deletion syndrome. Chromosomal analysis showed a partial duplication of 22p11.2-pter and a terminal deletion of 22q13.31-qter. Maternal chromosomal analysis showed a pericentric inversion of chromosome 22, with breakpoints at p11.2 and q13.31 [inv(22)(p11.2q13.31)]. The deleted chromosome resulted from a recombinant chromosome inherited from his mother. This is a rare case of 22q13 deletion syndrome associated with parental pericentric inversion of chromosome 22.
引用
收藏
页码：19 / 21
页数：3
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