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Mosaic ring Y chromosome in two normal healthy men with azoospermia.
Fertil Steril. 2005 Dec; 84(6):1744.FS

Abstract

OBJECTIVE

To better define by molecular and cytogenetic techniques ring Y chromosomes detected in 2 infertile men.

DESIGN

Case report.

SETTING

Molecular genetics/cytogenetics unit in a university hospital.

PATIENT(S)

Two infertile men with azoospermia, presenting a normal male phenotype with complete masculinization.

INTERVENTION(S)

Karyotype and genetic counseling.

MAIN OUTCOME MEASURE(S)

Metaphases were studied by standard G- and Q-banding; fluorescent in situ hybridization and PCR were performed to analyze specific Y chromosome regions.

RESULT(S)

Chromosomal analysis detected a mosaicism with a Y chromosome ring cell line in 92% (patient 1) and 95% (patient 2) of the metaphases, coexisting with a 45,X cell line in the remaining metaphases. In patient 1, PCR analysis showed the presence of AZFa region and a partial deletion of AZFb region; AZFc region was deleted. In patient 2 all three AZF regions were deleted.

CONCLUSION(S)

A 45,X/46,X,r(Y) mosaicism can be detected not only in patients with Ullrich-Turner syndrome and in patients with various degrees of genital ambiguity but also in men presenting a normal phenotype. Their azoospermia can be explained by partial or total deletion of AZF regions.

Authors+Show Affiliations

Laboratory of Cytogenetics and Molecular Genetics, Azienda Ospedaliera Universitaria Pisana, Pisa, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16359976

Citation

Bertini, Veronica, et al. "Mosaic Ring Y Chromosome in Two Normal Healthy Men With Azoospermia." Fertility and Sterility, vol. 84, no. 6, 2005, p. 1744.
Bertini V, Canale D, Bicocchi MP, et al. Mosaic ring Y chromosome in two normal healthy men with azoospermia. Fertil Steril. 2005;84(6):1744.
Bertini, V., Canale, D., Bicocchi, M. P., Simi, P., & Valetto, A. (2005). Mosaic ring Y chromosome in two normal healthy men with azoospermia. Fertility and Sterility, 84(6), 1744.
Bertini V, et al. Mosaic Ring Y Chromosome in Two Normal Healthy Men With Azoospermia. Fertil Steril. 2005;84(6):1744. PubMed PMID: 16359976.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mosaic ring Y chromosome in two normal healthy men with azoospermia. AU - Bertini,Veronica, AU - Canale,Domenico, AU - Bicocchi,Maria Patrizia, AU - Simi,Paolo, AU - Valetto,Angelo, PY - 2005/02/25/received PY - 2005/06/13/revised PY - 2005/06/13/accepted PY - 2005/12/20/pubmed PY - 2006/2/9/medline PY - 2005/12/20/entrez SP - 1744 EP - 1744 JF - Fertility and sterility JO - Fertil. Steril. VL - 84 IS - 6 N2 - OBJECTIVE: To better define by molecular and cytogenetic techniques ring Y chromosomes detected in 2 infertile men. DESIGN: Case report. SETTING: Molecular genetics/cytogenetics unit in a university hospital. PATIENT(S): Two infertile men with azoospermia, presenting a normal male phenotype with complete masculinization. INTERVENTION(S): Karyotype and genetic counseling. MAIN OUTCOME MEASURE(S): Metaphases were studied by standard G- and Q-banding; fluorescent in situ hybridization and PCR were performed to analyze specific Y chromosome regions. RESULT(S): Chromosomal analysis detected a mosaicism with a Y chromosome ring cell line in 92% (patient 1) and 95% (patient 2) of the metaphases, coexisting with a 45,X cell line in the remaining metaphases. In patient 1, PCR analysis showed the presence of AZFa region and a partial deletion of AZFb region; AZFc region was deleted. In patient 2 all three AZF regions were deleted. CONCLUSION(S): A 45,X/46,X,r(Y) mosaicism can be detected not only in patients with Ullrich-Turner syndrome and in patients with various degrees of genital ambiguity but also in men presenting a normal phenotype. Their azoospermia can be explained by partial or total deletion of AZF regions. SN - 1556-5653 UR - https://www.unboundmedicine.com/medline/citation/16359976/Mosaic_ring_Y_chromosome_in_two_normal_healthy_men_with_azoospermia_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0015-0282(05)03330-3 DB - PRIME DP - Unbound Medicine ER -