Mattei J F, Mattei M G, Ardissone J P, Taramasco H, Giraud F
Clin Genet. 1980 Feb;17(2):129-36. doi: 10.1111/j.1399-0004.1980.tb00121.x.
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.
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。