9p缺失综合征。一名因母亲减数分裂3:1分离而具有45, XX, -9, -15, +t(9/15)核型的患者。
The 9p- deletion syndrome. A patient with a 45, XX-9, -15, +t(9/15) constitution due to maternal 3:1 meiotic disjunction.
作者信息
Bergamo F, Crosato F, Francesconi D, Pasqual F, Zuffardi O
出版信息
Clin Genet. 1977 Mar;11(3):219-23. doi: 10.1111/j.1399-0004.1977.tb01303.x.
Abstract
Deletion of the short arm of chromosome 9, derived from a 3:1 meiotic segregation in the mother, carrier of a balanced 9/15 translocation, was found in a 3-year-old female. Severe psychomotor retardation with delayed speech, brachicephaly, flat occiput hypertelorism and long upper lip were the main signs in the girl.
摘要
在一名3岁女童中发现了9号染色体短臂缺失，该缺失源于母亲（一名9/15平衡易位携带者）减数分裂时3:1的分离。该女童的主要体征为严重精神运动发育迟缓、言语延迟、短头畸形、枕部扁平、眼距增宽和上唇过长。
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