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Short arm dicentric Y chromosome with associated statural defects in a sterile man.

作者信息

Chandley A C, Ambros P, McBeath S, Hargreave T B, Kilanowski F, Spowart G

出版信息

Hum Genet. 1986 Aug;73(4):350-3. doi: 10.1007/BF00279099.

DOI:10.1007/BF00279099
PMID:2427435
Abstract

A short arm dicentric Y chromosome is described as the predominant cell line in a sterile man. The patient also presents with short stature. Tooth development appears normal. Only Sertoli cells are present in the seminiferous tubules. It is suggested that the function of the gene controlling spermatogenesis in Yq11 in man might be to prevent proliferation or migration of germ cells to the gonad of the early embryo.

摘要

相似文献

1
Short arm dicentric Y chromosome with associated statural defects in a sterile man.
Hum Genet. 1986 Aug;73(4):350-3. doi: 10.1007/BF00279099.
2
Short arm dicentric Y chromosome in a sterile man: a case report.
J Urol. 1991 Aug;146(2):415-6. doi: 10.1016/s0022-5347(17)37810-2.
3
Short-arm dicentric Y chromosome associated with Sertoli-cell-only tubule.与唯支持细胞小管相关的短臂双着丝粒Y染色体。
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4
Y isochromosome associated with a mosaic karyotype and inactivation of the centromere.Y染色体等臂染色体与嵌合核型及着丝粒失活相关。
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5
Dicentric Y chromosome in azoospermic males.
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Y;autosome translocations and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to distal Yq11.Y；45，X男性病因中的常染色体易位和嵌合体：生育因子定位于Yq11远端
Hum Genet. 1988 May;79(1):2-7. doi: 10.1007/BF00291700.
7
Deleted Yq in the sterile son of a man with a satellited Y chromosome (Yqs).在一名具有随体Y染色体（Yqs）男性的不育儿子中Yq缺失。
J Med Genet. 1989 Mar;26(3):145-53. doi: 10.1136/jmg.26.3.145.
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Interstitial deletions of repetitive DNA blocks in dicentric human Y chromosomes.双着丝粒人类Y染色体中重复DNA片段的间质性缺失。
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Deletion mapping of DNA segments from the Y chromosome long arm and their analysis in an XX male.Y染色体长臂DNA片段的缺失定位及其在一名XX男性中的分析。
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Unstable ring Y chromosome in an aspermic male.一名无精子症男性的不稳定环状Y染色体。
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Interstitial 4q Deletion and Isodicentric Y-Chromosome in a Patient with Dysmorphic Features.一名具有畸形特征患者的间质性4号染色体缺失和等臂Y染色体

本文引用的文献

1
Syndrome produced by absence of the germinal epithelium without impairment of the Sertoli or Leydig cells.因生精上皮缺失而产生的综合征，而支持细胞或间质细胞未受损害。
J Clin Endocrinol Metab. 1947 Jul;7(7):493-502. doi: 10.1210/jcem-7-7-493.
2
Tooth sizes in two males with deletions of the long arm of the Y-chromosome.两名Y染色体长臂缺失男性的牙齿大小
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A synopsis of the human Y chromosome.人类Y染色体概述。
Mol Syndromol. 2012 Jun;3(1):39-43. doi: 10.1159/000338468. Epub 2012 May 11.
4
Short stature and azoospermia in a patient with Y chromosome long arm deletion.
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A reassessment of Y chromosomal behaviour in germ cells and Sertoli cells of the mouse as revealed by in situ hybridisation.
Chromosoma. 1995 Dec;104(4):282-6. doi: 10.1007/BF00352259.
6
Interstitial deletions of repetitive DNA blocks in dicentric human Y chromosomes.双着丝粒人类Y染色体中重复DNA片段的间质性缺失。
Chromosoma. 1994 Sep;103(5):324-30. doi: 10.1007/BF00417879.
7
Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature.等臂双着丝粒Y染色体：细胞遗传学、分子学及临床研究与文献综述
Hum Genet. 1995 Jul;96(1):119-29. doi: 10.1007/BF00214200.
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Deleted Yq in the sterile son of a man with a satellited Y chromosome (Yqs).在一名具有随体Y染色体（Yqs）男性的不育儿子中Yq缺失。
J Med Genet. 1989 Mar;26(3):145-53. doi: 10.1136/jmg.26.3.145.
9
Y chromosome specific probes identify breakpoint in a 45,X/46,X,del(Y)(pter----q11.1:) karyotype of an infertile male.Y染色体特异性探针鉴定出一名不育男性45,X/46,X,del(Y)(pter----q11.1:)核型中的断点。
J Med Genet. 1989 May;26(5):330-3. doi: 10.1136/jmg.26.5.330.
Hum Genet. 1980;55(2):145-75. doi: 10.1007/BF00291764.
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Distamycin A-DAPI banding of nonfluorescent Y(Ynf) chromosomes in 45,X/46,XYnf mosaicism.
Hum Genet. 1982;60(2):130-2. doi: 10.1007/BF00569698.
5
A deletion of heterochromatin only of the Y chromosome in an azoospermic male.一名无精子症男性仅Y染色体异染色质缺失。
Hum Genet. 1983;64(3):297-300. doi: 10.1007/BF00279416.
6
Dicentric i(Yq) chromosome and azoospermia.
Am J Med Genet. 1983 Mar;14(3):583-90. doi: 10.1002/ajmg.1320140323.
7
Simultaneous fluorescent staining of R bands and specific heterochromatic regions (DA-DAPI bands) in human chromosomes.人类染色体中R带与特定异染色质区域（DA-DAPI带）的同步荧光染色。
Cytogenet Cell Genet. 1980;27(2-3):190-3. doi: 10.1159/000131482.
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Mitotic behavior of a human dicentric Y chromosome.
Cytogenetics. 1971;10(3):208-18. doi: 10.1159/000130140.
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Communications and commentaries: A 46,XYq- male with aspermia.
Fertil Steril. 1973 Oct;24(10):811-3. doi: 10.1016/s0015-0282(16)39979-4.
10
A patient with a dicentric Y chromosome.一名患有双着丝粒Y染色体的患者。
Clin Genet. 1974;6(4):326-31. doi: 10.1111/j.1399-0004.1974.tb02094.x.