McDonald M T, Flejter W, Sheldon S, Putzi M J, Gorski J L
Department of Pediatrics, University of Michigan, Ann Arbor 48109-0688, USA.
Am J Med Genet. 1997 Dec 19;73(3):321-6.
We describe a case of XY sex reversal, gonadal dysgenesis, and gonadoblastoma in a patient with a deletion of 9p24 due to a familial translocation. The rearranged chromosome 9 was inherited from the father; the patient's karyotype was 46,XY,der(9)t(8;9) (p21;p24)pat. A review shows that 6 additional patients with 46,XY sex reversal associated with monosomy of the distal short arm of chromosome 9 have been observed. The observation that all 7 patients with sex reversal share a deletion of the distal short arm of chromosome 9 is consistent with the hypothesis that the region 9p24 contains a gene or genes necessary for male sex determination. This present case narrows the chromosome interval containing a critical sex determination gene to the relatively small region 9p24. A molecular analysis of this region will provide a means to identify a gene involved in male sex determination.
我们描述了一例因家族性易位导致9p24缺失的患者，该患者存在XY性反转、性腺发育不全和性腺母细胞瘤。重排的9号染色体来自父亲；患者的核型为46,XY,der(9)t(8;9)(p21;p24)pat。一项综述显示，已观察到另外6例46,XY性反转且伴有9号染色体短臂远端单体性的患者。所有7例性反转患者均存在9号染色体短臂远端缺失这一观察结果，与9p24区域包含一个或多个男性性别决定所必需的基因这一假说相符。本病例将包含关键性别决定基因的染色体区间缩小至相对较小的9p24区域。对该区域进行分子分析将提供一种鉴定参与男性性别决定的基因的方法。
