在一名患有9号染色体重复-缺失且腺苷酸激酶-1存在基因剂量效应的儿童的父亲中发现了臂间倒位，inv(9)(p22 q32)。
Pericentric inversion, inv(9) (p22 q32), in the father of a child with a duplication-deletion of chromosome 9 and gene dosage effect for adenylate kinase-1.
作者信息
Mattei J F, Mattei M G, Ardissone J P, Taramasco H, Giraud F
出版信息
Clin Genet. 1980 Feb;17(2):129-36. doi: 10.1111/j.1399-0004.1980.tb00121.x.
Abstract
A pericentric inversion of chromosome 9 was detected in the father of a child with partial trisomy involving the long arms and partial monosomy of the short arms of chromosome 9. A gene dosage effect was demonstrated for adenylate kinase 1 in erythrocytes.
摘要
在一名患有9号染色体长臂部分三体性和短臂部分单体性的患儿父亲身上检测到9号染色体的臂间倒位。红细胞中腺苷酸激酶1存在基因剂量效应。
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