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Brief clinical report: renal hypodysplasia and unilateral ovarian agenesis in the penta-X syndrome.

作者信息

Toussi T, Halal F, Lesage R, Delorme F, Bergeron A

出版信息

Am J Med Genet. 1980;6(2):153-62. doi: 10.1002/ajmg.1320060209.

DOI:10.1002/ajmg.1320060209
PMID:7446561
Abstract

We report the case of a 3-year-old penta-X female with two previously undescribed anomalies: hypoplastic kidney and absent ipsilateral ovary. The gross and histologic structure of the contralateral ovary was normal, suggesting that adults with this syndrome may be fertile.

摘要

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引用本文的文献

1
Report of a new case with pentasomy X and novel clinical findings.一例X染色体五体及新临床发现的新病例报告。
Balkan J Med Genet. 2015 Dec 30;18(1):85-92. doi: 10.1515/bjmg-2015-0010. eCollection 2015 Jun.
2
A case of 49,XXXXX in which the extra X chromosomes were maternal in origin.
J Clin Pathol. 2004 Sep;57(9):1004-6. doi: 10.1136/jcp.2004.017475.
3
Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis.多囊肾。遗传学、病理解剖学、临床表现及产前诊断。
Hum Genet. 1984;68(2):104-35. doi: 10.1007/BF00279301.
4
Is unilateral multicystic renal dysplasia sometimes heritable, and what is the risk of recurrence?单侧多囊性肾发育不良有时会遗传吗?复发风险是多少?
Pediatr Nephrol. 1990 Nov;4(6):662. doi: 10.1007/BF00858646.