Chen C P, Lin S P
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China.
Genet Couns. 2003;14(3):359-62.
We present clinical and cytogenetic data on a 2.5 year-old boy with partial monosomy 22p (p11.2-->pter) and distal 10q trisomy (10q24.1-->qter), resulting from maternal t(10;22) reciprocal translocation. The patient had bilateral hydronephrosis and hydroureters but without evidence of vesicoureteral reflux. Our clinical observation suggests that urinary collecting system anomaly may be an integral part of distal 10q trisomy syndrome. We recommend detailed imaging studies of urinary tracts be performed on probands with chromosomal disorders involving a duplication of distal 10q.
我们报告了一名2.5岁男孩的临床和细胞遗传学数据,该男孩因母亲的t(10;22)相互易位导致22p部分单体性(p11.2→pter)和10q远端三体性(10q24.1→qter)。患者有双侧肾积水和输尿管积水,但无膀胱输尿管反流证据。我们的临床观察表明,泌尿系统集合系统异常可能是10q远端三体综合征的一个组成部分。我们建议对涉及10q远端重复的染色体疾病先证者进行详细的泌尿系统影像学检查。