9号染色体短臂三体伴9号染色体短臂等臂染色体及9号染色体长臂与18号染色体短臂易位
Trisomy 9p with i(9p) and t(9q18p).
作者信息
Herva R, Koivisto M
出版信息
Hum Genet. 1979 Sep;50(3):237-40. doi: 10.1007/BF00399387.
PMID:489006
Abstract
The trisomy 9p syndrome in a 2-year-old girl with moderate mental retardation is presented. She has a unique karyotype with a de novo isochromosome 9p and a translocation between 9q and 18p.
摘要
本文报告了一名患有中度智力障碍的2岁女孩的9p三体综合征。她具有独特的核型，即一条新发的9号等臂染色体以及9号染色体长臂与18号染色体短臂之间的易位。
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