与染色体畸变相关的肾脏和泌尿道异常。
Renal and urinary tract abnormalities associated with chromosome aberrations.
作者信息
Barakat A Y, Butler M G
机构信息
Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee.
出版信息
Int J Pediatr Nephrol. 1987 Oct-Dec;8(4):215-26.
Abstract
The frequency of malformations of the kidney and urinary tract is much higher in patients with chromosome aberrations than in the general population. Sixty to 100% of "cat-eye" syndrome, 60 to 80% of Turner, 75% of trisomy 8, 33 to 70% of trisomy 18, 50 to 60% of trisomy 13, and over 50% of triploidy and tetraploidy patients may have such abnormalities. Renal and urinary tract malformations should be looked for in all patients with chromosome aberrations. Moreover, a chromosome study is indicated in any fetus with an ultrasonographic evidence of urinary tract abnormality.
摘要
染色体畸变患者中肾脏和泌尿系统畸形的发生率远高于普通人群。“猫眼”综合征患者中有60%至100%、特纳综合征患者中有60%至80%、8号三体患者中有75%、18号三体患者中有33%至70%、13号三体患者中有50%至60%，以及三倍体和四倍体患者中有超过50%可能有此类异常。对于所有染色体畸变患者都应检查是否存在肾脏和泌尿系统畸形。此外，任何超声检查显示有泌尿系统异常的胎儿都需要进行染色体检查。
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本文引用的文献
1
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Am J Hum Genet. 1966 Jul;18(4):387-98.
2
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J Med Genet. 1966 Dec;3(4):290-2. doi: 10.1136/jmg.3.4.290.
3
CHROMOSOMES IN COLOBOMA AND ANAL ATRESIA.先天性虹膜缺损和肛门闭锁中的染色体
Lancet. 1965 Aug 7;2(7406):290. doi: 10.1016/s0140-6736(65)92415-3.
4
MULTIPLE CONGENITAL ANOMALIES ASSOCIATED WITH A PARTIALLY RING-SHAPED CHROMOSOME PROBABLY DERIVED FROM CHROMOSOME NO. 18 IN MAN.与一条可能源自人类第18号染色体的部分环形染色体相关的多种先天性畸形。
Nature. 1964 May 23;202:829-30. doi: 10.1038/202829a0.
5
CONSERVATIVE SURGERY IN HORSESHOE-KIDNEY.马蹄肾的保守性手术
Urol Int. 1963;16:129-38. doi: 10.1159/000279075.
6
A new autosomal trisomy syndrome: multiple congenital anomalies caused by an extra chromosome.一种新的常染色体三体综合征：由额外一条染色体导致的多种先天性异常。
J Pediatr. 1960 Sep;57:338-45. doi: 10.1016/s0022-3476(60)80241-7.
7
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8
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