梅干腹异常：异质性与表面X连锁模仿
The prune belly anomaly: heterogeneity and superficial X-linkage mimicry.
作者信息
Riccardi V M, Grum C M
出版信息
J Med Genet. 1977 Aug;14(4):266-70. doi: 10.1136/jmg.14.4.266.
Abstract
The genetic, clinical, and necropsy findings of 2 brothers with the prune belly anomaly are presented and the literature reviewed. The combined data emphasise the clinical and genetic heterogeneity of the disorder and show that in at least some instances a heritable component may be the primary insult. The most likely heritable explanation involves a two-step autosomal dominant mutation with sex-limited expression that partially mimics X-linkage.
摘要
本文报告了2例患有梅干腹综合征兄弟的遗传学、临床及尸检结果，并对相关文献进行了综述。综合数据强调了该疾病的临床和遗传异质性，表明至少在某些情况下，遗传因素可能是主要病因。最可能的遗传解释涉及一种两步常染色体显性突变，其表达具有性别限制，部分模拟了X连锁遗传。
相似文献
1
The prune belly anomaly: heterogeneity and superficial X-linkage mimicry.梅干腹异常：异质性与表面X连锁模仿
J Med Genet. 1977 Aug;14(4):266-70. doi: 10.1136/jmg.14.4.266.
2
Prune-belly syndrome with chromosomal fragment.伴有染色体片段的梅干腹综合征
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3
Prune belly syndrome.梅干腹综合征
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4
Prune belly syndrome. Possible genetic implications.梅干腹综合征。可能的遗传学影响。
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5
Diploid/tetraploid mosaicism in a stillborn infant with prune belly anomaly.
Ann Genet. 1990;33(1):49-51.
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Chromosomal abnormality in prune belly syndrome.梅干腹综合征中的染色体异常。
Humangenetik. 1973 Dec 10;20(3):265-7. doi: 10.1007/BF00385738.
7
Siblings with prune belly syndrome and associated pulmonic stenosis, mental retardation, and deafness.患有梅干腹综合征并伴有肺动脉狭窄、智力障碍和耳聋的兄弟姐妹。
Urology. 1979 Aug;14(2):140-2. doi: 10.1016/0090-4295(79)90145-6.
8
Bladder calcification in the prune-belly syndrome.梅干腹综合征中的膀胱钙化。
Radiology. 1981 Mar;138(3):597-600. doi: 10.1148/radiology.138.3.6450961.
9
The "prune belly" syndrome.“梨状腹”综合征。
S Afr J Surg. 1971 Jan-Mar;9(1):45-51.
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[Prune belly syndrome].[梅干腹综合征]
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引用本文的文献
1
Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene.男性存活的梅干腹综合征可能是由 X 连锁细丝蛋白 A 基因的杂合错义突变引起的。
BMC Med Genet. 2020 Feb 21;21(1):38. doi: 10.1186/s12881-020-0973-x.
2
Copy number variations in a population with prune belly syndrome.具有梅干腹综合征人群中的拷贝数变异。
Am J Med Genet A. 2018 Nov;176(11):2276-2283. doi: 10.1002/ajmg.a.40476. Epub 2018 Oct 4.
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Genetic basis of prune belly syndrome: screening for HNF1β gene.Prune belly 综合征的遗传学基础：HNF1β 基因筛查。
J Urol. 2012 Jan;187(1):272-8. doi: 10.1016/j.juro.2011.09.036. Epub 2011 Nov 23.
4
Prune belly syndrome--report of 47 cases.梅干腹综合征——47例报告。
Arch Dis Child. 1982 Nov;57(11):856-9. doi: 10.1136/adc.57.11.856.
本文引用的文献
1
The triad syndrome: a composite anomaly of the abdominal wall, urinary system and testes.三联征综合征：一种腹壁、泌尿系统和睾丸的复合畸形。
J Urol. 1961 Dec;86:782-94. doi: 10.1016/S0022-5347(17)65261-3.
2
Congenital absence of the abdominal muscles with associated abnormalities of the genito-urinary tract.先天性腹肌缺如伴泌尿生殖道相关异常。
Arch Dis Child. 1956 Jun;31(157):236-9. doi: 10.1136/adc.31.157.236.
3
Genetic heterogeneity.
N Engl J Med. 1968 Dec 5;279(23):1267-74 concl. doi: 10.1056/NEJM196812052792306.
4
[Congenital aplasia of the abdominal wall. A familial case].[先天性腹壁发育不全。1例家族性病例]
Ann Pediatr (Paris). 1972 Jun-Jul;19(6):523-8.
5
Prune belly syndrome.梅干腹综合征
J Urol. 1972 Jul;108(1):174-6. doi: 10.1016/s0022-5347(17)60675-x.
6
The myopathology of the Prune belly syndrome.梅干腹综合征的肌病理学
J Neurol Sci. 1972 Feb;15(2):153-65. doi: 10.1016/0022-510x(72)90003-2.
7
Congenital absence of the abdominal muscles: a clinicopathologic correlation.先天性腹肌缺如：临床病理相关性
Am J Clin Pathol. 1970 May;53(5):602-8. doi: 10.1093/ajcp/53.5.602.
8
Congenital absence of abdominal muscles: report of 6 cases.先天性腹肌缺如：6例报告
J Urol. 1967 Aug;98(2):252-9. doi: 10.1016/S0022-5347(17)62865-9.
9
The prune belly syndrome.梅干腹综合征。
J Urol. 1967 Aug;98(2):244-51. doi: 10.1016/S0022-5347(17)62864-7.
10
The abdominal muscle deficiency triad syndrome--experience with ten cases.腹肌缺如三联征综合征——10例经验
Birth Defects Orig Artic Ser. 1974;10(4):127-35.
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