Tagaya Mitsuhiko, Mizuno Seiji, Hayakawa Masahiro, Yokotsuka Taro, Shimizu Satoko, Fujimaki Hidehiko
Department of Neonatology, Toyota Memorial Hospital, Toyota Maternity and Perinatal Care Center, Nagoya University Hospital, Nagoya, Japan Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi.
Clin Dysmorphol. 2008 Jan;17(1):19-21. doi: 10.1097/MCD.0b013e3281c1c81d.
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.
我们描述了一名患有22q13缺失综合征的10个月大男孩。染色体分析显示22p11.2 - pter部分重复以及22q13.31 - qter末端缺失。母亲的染色体分析显示22号染色体臂间倒位，断点位于p11.2和q13.31 [inv(22)(p11.2q13.31)]。缺失的染色体源自从他母亲遗传而来的重组染色体。这是一例罕见的与父母22号染色体臂间倒位相关的22q13缺失综合征病例。
