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Familial pericentric inversion of chromosome 1 (p34q23) and male infertility with stage specific spermatogenic arrest.

作者信息

Meschede D, Froster U G, Bergmann M, Nieschlag E

机构信息

Institute of Reproductive Medicine of the University, Münster, Germany.

出版信息

J Med Genet. 1994 Jul;31(7):573-5. doi: 10.1136/jmg.31.7.573.

DOI:10.1136/jmg.31.7.573
PMID:7966196
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049983/
Abstract

We report on two infertile brothers presenting with severe oligozoospermia or azoospermia. Testicular biopsy was performed on one of them and showed spermatogenic arrest at the level of primary spermatocytes. Both brothers were found to be heterozygous for a pericentric inversion of chromosome 1 (46,XY,inv(1)(p34q23)). The inversion chromosome was inherited through the maternal line, with no indication of subfertility in the probands' mother.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ae4b/1049983/b5b97cb80cc5/jmedgene00286-0072-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ae4b/1049983/9ccac96ca67a/jmedgene00286-0072-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ae4b/1049983/b5b97cb80cc5/jmedgene00286-0072-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ae4b/1049983/9ccac96ca67a/jmedgene00286-0072-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ae4b/1049983/b5b97cb80cc5/jmedgene00286-0072-b.jpg

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Familial pericentric inversion of chromosome 1 (p34q23) and male infertility with stage specific spermatogenic arrest.
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引用本文的文献

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The importance of clinical documentation in genetic studies of male infertility.
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本文引用的文献

1
Serum FSH and testicular morphology in male infertility.男性不育症中的血清促卵泡激素与睾丸形态学
Clin Endocrinol (Oxf). 1994 Jan;40(1):133-6. doi: 10.1111/j.1365-2265.1994.tb02455.x.
2
Pericentric inversion of chromosome 1 in an azoospermic man.一名无精子症男性的1号染色体臂间倒位
J Med Genet. 1982 Aug;19(4):303-5.
3
Familial inv(1) (p3500q21.3) associated with azoospermia.与无精子症相关的家族性inv(1)(p3500q21.3)
Hum Genet. 1984;66(2-3):165-7. doi: 10.1007/BF00286593.
4
Familial inv(1)(p36.3q12) associated with sterility.与不育相关的家族性inv(1)(p36.3q12)。
J Med Genet. 1986 Feb;23(1):90-1. doi: 10.1136/jmg.23.1.90-a.
5
Synapsis and synaptic adjustment in an infertile human male heterozygous for a pericentric inversion in chromosome 1.一名1号染色体臂间倒位杂合的不育男性的联会和突触调整
Hum Genet. 1986 Feb;72(2):148-52. doi: 10.1007/BF00283934.
6
Loop formation and synaptic adjustment in a human male heterozygous for two pericentric inversions.一名男性杂合子存在两个臂间倒位时的环形成和突触调整
Chromosoma. 1986;93(4):313-20. doi: 10.1007/BF00327589.
7
Pericentric inversion in human chromosome 1 and the risk for male sterility.人类1号染色体的臂间倒位与男性不育风险
J Med Genet. 1987 Jun;24(6):325-34. doi: 10.1136/jmg.24.6.325.
8
Electron microscopic investigations of synaptonemal complexes in an infertile human male carrier of a pericentric inversion inv(1)(p32q42). Regular loop formation but defective synapsis including a possible interchromosomal effect.对一名患有1号染色体臂间倒位inv(1)(p32q42)的不育男性携带者的联会复合体进行电子显微镜研究。发现有规则的环形成，但联会存在缺陷，包括可能的染色体间效应。
Hum Genet. 1987 May;76(1):81-9. doi: 10.1007/BF00283055.
9
Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories.羊膜穿刺术时染色体重排携带者不平衡后代的风险：来自美国和加拿大实验室的数据。
Am J Med Genet. 1989 May;33(1):14-53. doi: 10.1002/ajmg.1320330105.
10
Cytogenetic studies in male infertility: a review.男性不育的细胞遗传学研究：综述
Hum Reprod. 1991 Feb;6(2):245-50.