一例新发3q间质缺失病例。
A case of de novo interstitial deletion 3q.
作者信息
Okada N, Hasegawa T, Osawa M, Fukuyama Y
出版信息
J Med Genet. 1987 May;24(5):305-8. doi: 10.1136/jmg.24.5.305.
A rare chromosome abnormality consisting of interstitial deletion 3q was found in a malformed girl. Chromosome analysis using G and Q banding showed deletion of bands 3q12----3q21: 46,XX,del(3)(pter----q12::q21----qter). The clinical features of the proband included severe psychomotor retardation, craniofacial asymmetry, hypertelorism, epicanthus, high arched palate, progressive scoliosis, multiple skin pigmentations, and renal abnormalities. The parents had normal karyotypes.
在一名畸形女童中发现了一种罕见的染色体异常，即3号染色体间质缺失。采用G显带和Q显带进行的染色体分析显示3q12至3q21条带缺失：46,XX,del(3)(pter→q12::q21→qter)。先证者的临床特征包括严重精神运动发育迟缓、颅面不对称、眼距增宽、内眦赘皮、高拱腭、进行性脊柱侧弯、多处皮肤色素沉着以及肾脏异常。其父母的核型正常。
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