Abnormal meiotic recombination with complex chromosomal rearrangement in an azoospermic man

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A complex balanced rearrangement involving four chromosomes in an azoospermic man.

A complex chromosomal rearrangement involving chromosomes 1, 5, 10, and 12 is described. The patient was an infertile, phenotypically normal male. Cytogenetic analyses of his parents showed that the complex translocation arose de novo. Testicular histology showed spermatogenic arrest.

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a rare de novo complex chromosomal rearrangement (ccr) involving four chromosomes in an oligo-asthenosperm infertile man

complex chromosomal rearrangements (ccrs) are rare events involving more than two chromosomes and over two breakpoints. they are usually associated with infertility or sub fertility in male carriers. here we report a novel case of a ccr in a 30-year-old oligoasthenosperm man with a history of varicocelectomy, normal testes size and normal endocrinology profile referred for chromosome analysis t...

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Abnormal synapses and recombination in an azoospermic male carrier of a reciprocal translocation t(1;21).

OBJECTIVE To study the meiotic abnormalities during prophase I in an azoospermic man with t(1;21) reciprocal translocation. DESIGN Analysis of synapses, recombination, and transcription inactivation in a testicular biopsy sample. SETTING Research laboratory. PATIENT(S) One azoospermic patient with t(1;21) and five men with normal spermatogenesis. INTERVENTION(S) Immunostaining for SCP3,...

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Chromosomal Aneuploidy in Azoospermic Men

The aim of this study was to estimate the prevalence of chromosome abnormalities in patients with azoospermia, in our material. Preoperative evaluation included routine andrological investigations with 2 semen analysis, ultrasound, hormonal and genetic examinations. In the last three years, 73 biopsies were performed for testicular sperm extraction in 71 patients. Non-obstructive azoospermia wa...

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Meiotic recombination cold spots in chromosomal cohesion sites.

Meiotic chromosome architecture called 'axis-loop structures' and histone modifications have been shown to regulate the Spo11-dependent formation of DNA double-strand breaks (DSBs) that trigger meiotic recombination. Using genome-wide chromatin immunoprecipitation (ChIP) analyses followed by deep sequencing, we compared the genome-wide distribution of the axis protein Rec8 (the kleisin subunit ...

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ژورنال

عنوان ژورنال: Reproductive BioMedicine Online

سال: 2015

ISSN: 1472-6483

DOI: 10.1016/j.rbmo.2015.02.015