Terminal deletion of the long arm of chromosome 10
Terminal deletion of the long arm of chromosome 10
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DOI：
10.1111/j.1399-0004.2004.00218.x
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发表时间：
2004-04-01
影响因子：
3.5
通讯作者：
LeHeup, B
中科院分区：
文献类型：
--
作者：
Scigliano, S;Grégoire, MJ;LeHeup, B
本文报道2例女性10号染色体长臂末端从头缺失，1例为del(10)(q26.2)， 1例为del(10)（q26.3）。两例患者均表现出与尿路异常相关的巨阶梯。既往报道有4例类似患者继发于尿路梗阻后膀胱扩张。这些新病例强调了10q染色体末端缺失综合征可能涉及膀胱和尿道，提示在这种情况下应仔细评估肾脏和泌尿道。此外，在产前诊断明显孤立性膀胱梗阻的情况下，特别是在女性中，应考虑到单体10分之一综合征的可能性。
The case of two female patients with de novo terminal deletion of the long arm of chromosome 10, one with del(10)(q26.2) and the other with del(10)(q26.3), is reported. Both presented with megabladder associated with urinary tract abnormalities. The case of four similar patients has been previously reported with bladder dilatation secondary to urinary obstruction. These new cases highlight the possible involvement of the bladder and the urethra in the syndrome of chromosome 10q terminal deletion, suggesting a careful renal and urinary tract evaluation in such situations. Moreover, the possibility of monosomy 10qter syndrome should be borne in mind in the case of prenatal diagnosis of apparently isolated bladder obstruction, especially in females.