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一名无精子症男性的1号染色体臂间倒位

Pericentric inversion of chromosome 1 in an azoospermic man.

作者信息

Tóth A, Gaál M, Sára G, László J

出版信息

J Med Genet. 1982 Aug;19(4):303-5.

PMID:7120320
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1048900/
Abstract

An azoospermic patient with an inherited inversion of chromosome 1 and a normal Y chromosome is described. The mother of the patient has the same inversion.

摘要

本文描述了一名患有1号染色体遗传性倒位且Y染色体正常的无精子症患者。该患者的母亲有相同的倒位。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0f2/1048900/e08b457529a6/jmedgene00114-0069-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0f2/1048900/b415a0afa5cf/jmedgene00114-0068-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0f2/1048900/95e7e3d39a2b/jmedgene00114-0068-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0f2/1048900/e08b457529a6/jmedgene00114-0069-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0f2/1048900/b415a0afa5cf/jmedgene00114-0068-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0f2/1048900/95e7e3d39a2b/jmedgene00114-0068-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0f2/1048900/e08b457529a6/jmedgene00114-0069-a.jpg

相似文献

1
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.
2
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引用本文的文献

1
Pericentric inversion in chromosome 1 and male infertility.1号染色体臂间倒位与男性不育
Open Med (Wars). 2020 Apr 20;15(1):343-348. doi: 10.1515/med-2020-0404. eCollection 2020.
2
Familial pericentric inversion of chromosome 1 (p34q23) and male infertility with stage specific spermatogenic arrest.
J Med Genet. 1994 Jul;31(7):573-5. doi: 10.1136/jmg.31.7.573.
3
Familial inv(1) (p3500q21.3) associated with azoospermia.与无精子症相关的家族性inv(1)(p3500q21.3)

本文引用的文献

1
Pericentric inversion of chromosome 1 in three sterile brothers.三个不育兄弟的1号染色体臂间倒位
Hum Genet. 1981;58(2):226-7. doi: 10.1007/BF00278718.
2
Structural differences in pericentric inversions. Application to a model of risk of recombinants.着丝粒周围倒位的结构差异。应用于重组风险模型。
Hum Genet. 1981;56(3):321-8. doi: 10.1007/BF00274687.
3
The origin of chromosomal aberrations in man and their potential for survival and reproduction in the adult human population.
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
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.
6
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.
7
Pericentric inversions in man: personal experience and review of the literature.人类的臂间倒位：个人经验与文献综述
Hum Genet. 1987 Apr;75(4):333-8. doi: 10.1007/BF00284103.
8
Familial pericentric and paracentric inversions of chromosome 1.1号染色体的家族性臂间倒位和臂内倒位。
Hum Genet. 1988 Aug;79(4):315-20. doi: 10.1007/BF00282168.
Ann Genet. 1981;24(1):5-11.
4
Association of pericentric inversion of chromosome 9 and reproductive failure in ten unrelated families.十个非亲缘家庭中9号染色体臂间倒位与生殖功能衰竭的关联
Humangenetik. 1975 Sep 20;30(3):217-24. doi: 10.1007/BF00279187.
5
[Mitotic and meiotic analysis of an Y-autosome translocation(author's transl)].
Humangenetik. 1975;27(3):241-5. doi: 10.1007/BF00278352.
6
Meiotic analysis of a pericentric inversion, inv(7) (p22q32), in the father of a child with a duplication-deletion of chromosome 7.对一名患有7号染色体重复-缺失患儿父亲的7号染色体臂间倒位inv(7)(p22q32)进行减数分裂分析。
Cytogenet Cell Genet. 1978;20(1-6):169-84. doi: 10.1159/000130849.