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Journal of Assisted Reproduction and Genetics

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01-04-2013 | Genetics

Non-chimerism and chimerism pseudo dicentric Y chromosome: two case reports about azoospermia and cytogenetic/molecular genetic analysis in the Chinese population

Authors: Ping Li, Lu Ding, Yan-Wei Sha, Yue-Qiang Song, Jin Lin, Erika F. Werner, Mingyu She

Published in: Journal of Assisted Reproduction and Genetics | Issue 4/2013

Abstract

Objective

To report the cytogenetic and molecular genetic analysis of the first two cases of non-chimerism and chimerism karyotype in Chinese male patients who suffer from azoospermia, which may be caused by pseudo dicentric Y chromosomes.

Design

Case study.

Setting

Academic reproductive medicine center.

Patients

Two male patients with azoospermia, carrying pseudo dicentric Y chromosome.

Interventions

Review the records of inquiry, testicular biopsy, pathological examination, semen routine examination, endocrine evaluation, cytogenetic chromosomal analysis, and FISH detection of peripheral blood to evaluate Y chromosome deletion.

Main outcome measures

To investigate the possible association among pseudo dicentric Y, chimeric status and azoospermia.

Results

Two patients were both diagnosed with azoospermia by a variety of andrology inspections. Further chromosomal analysis and FISH indicated their pseudo dicentric Y chromosome and different chimerism status. PCR confirmed simultaneous deletions of AZFb and AZFc regions in the Y chromosome of both patients.

Conclusions

Pseudodicentric Y chromosome affecting the long arm may lead to a male phenotype by duplicating the sex-determining region of Y chromosome (SRY) fragment and chimeric status may further impact patient's hormone levels, which obstruct spermatogenesis. However, the deletion of the azoospermia factor (AZF) is likely the key factor that causes azoospermia.

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Title: Non-chimerism and chimerism pseudo dicentric Y chromosome: two case reports about azoospermia and cytogenetic/molecular genetic analysis in the Chinese population
Authors: Ping Li
Lu Ding
Yan-Wei Sha
Yue-Qiang Song
Jin Lin
Erika F. Werner
Mingyu She
Publication date: 01-04-2013
Publisher: Springer US
Published in: Journal of Assisted Reproduction and Genetics / Issue 4/2013
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-013-9969-1

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Non-chimerism and chimerism pseudo dicentric Y chromosome: two case reports about azoospermia and cytogenetic/molecular genetic analysis in the Chinese population

Abstract

Objective

Design

Setting

Patients

Interventions

Main outcome measures

Results

Conclusions

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Objective

Design

Setting

Patients

Interventions

Main outcome measures

Results

Conclusions

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