双侧肾缺如的异质性。
Heterogeneity of bilateral renal agenesis.
作者信息
Fitch N
出版信息
Can Med Assoc J. 1977 Feb 19;116(4):381-2.
Abstract
Bilateral and unilateral renal agenesis may be expressions of single dominant gene. Chromosome abnormalities may be present and the renal agenesis may be part of a syndrome of multiple abnormalities. Apparently normal relatives of affected individuals should be screened by intravenous pyelography before genetic counselling given.
摘要
双侧和单侧肾缺如可能是单一显性基因的表现形式。可能存在染色体异常，且肾缺如可能是多种异常综合征的一部分。在进行遗传咨询之前，应对受影响个体的明显正常亲属进行静脉肾盂造影筛查。
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本文引用的文献
1
Bilateral absence of the kidneys and related congenital anomalies.双侧肾缺如及相关先天性异常。
J Pathol Bacteriol. 1954 Oct;68(2):459-74. doi: 10.1002/path.1700680220.
2
Renal agenesis and dysgenesis.肾缺如和发育不全。
J Urol. 1960 Mar;83:211-30. doi: 10.1016/S0022-5347(17)65695-7.
3
Nuclear sex and genital malformation in 48 cases of renal agenesis, with especial reference to nonspecific female pseudoheramphroditism.48例肾发育不全的核型性别与生殖器畸形，特别提及非特异性女性假两性畸形
Am J Obstet Gynecol. 1959 Aug;78(2):235-58. doi: 10.1016/0002-9378(59)90168-1.
4
Malformation of ears as sign of malformation of genito-urinary tract.耳部畸形作为泌尿生殖系统畸形的体征。
Br Med J. 1957 Oct 5;2(5048):785-9. doi: 10.1136/bmj.2.5048.785.
5
Bilateral renal agenesis in siblings.兄弟姐妹中的双侧肾缺如。
J Am Osteopath Assoc. 1957 Jul;56(11):681-4.
6
Bilateral agenesis of the kidneys in two consecutive infants.两名连续出生的婴儿双侧肾缺如。
Am J Obstet Gynecol. 1954 Mar;67(3):667-70. doi: 10.1016/0002-9378(54)90059-9.
7
Renal aplasia in sisters.姐妹俩的肾发育不全。
AMA Arch Pathol. 1952 Oct;54(4):403-6.
8
An XXsex chromosome complement in an infant having male-type external genitals, renal agenesis, and other anomalies.一名具有男性型外生殖器、肾缺如及其他异常的婴儿，其性染色体组成为XX。
J Pediatr. 1966 Nov;69(5):812-3. doi: 10.1016/s0022-3476(66)80131-2.
9
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Am J Roentgenol Radium Ther Nucl Med. 1970 Jun;109(2):399-402. doi: 10.2214/ajr.109.2.399.
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Radiology. 1971 Dec;101(3):629-30. doi: 10.1148/101.3.629.
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