Tsukuda T, Nagata I, Sawada H, Murakami J, Hanaki K, Urashima H, Kaneda T, Shimizu N, Kaibara N, Kodama N, Ohzeki T, Shiraki K
Department of Pediatrics, Faculty of Medicine, Tottori University, Yonago, Japan.
Clin Genet. 1996 Oct;50(4):220-2. doi: 10.1111/j.1399-0004.1996.tb02630.x.
We report a case of a boy with a partial deletion of the long arm of chromosome 10 and partial duplication of the long arm of chromosome 9 due to maternal balanced translocation. The karyotype was 46,XY,-10, +der(10)t(9;10)(q32;q26)mat. Our patient had imperforate anus and as this finding is usually not observed in association with trisomy 9q, it suggests that partial monosomy of the long arm of chromosome 10 might be associated with anogenital anomalies.
我们报告一例因母亲平衡易位导致10号染色体长臂部分缺失和9号染色体长臂部分重复的男孩病例。核型为46,XY,-10,+der(10)t(9;10)(q32;q26)mat。我们的患者患有肛门闭锁，由于在9号染色体长臂三体中通常未观察到这一发现，这表明10号染色体长臂部分单体性可能与肛门生殖器异常有关。
