+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Comprehensive 5-year study of cytogenetic aberrations in 668 infertile men

Comprehensive 5-year study of cytogenetic aberrations in 668 infertile men

Journal of Urology 183(4): 1636-1642

The causes of male infertility are heterogeneous but more than 50% of cases have a genetic basis. Specific genetic defects have been identified in less than 20% of infertile males and, thus, most causes remain to be elucidated. The most common cytogenetic defects associated with nonobstructive azoospermia are numerical and structural chromosome abnormalities, including Klinefelter syndrome (47,XXY) and Y chromosome microdeletions. To refine the incidence and nature of chromosomal aberrations in males with infertility we reviewed cytogenetic results in 668 infertile men with oligozoospermia and azoospermia. High resolution Giemsa banding chromosome analysis and/or fluorescence in situ hybridization were done in 668 infertile males referred for routine cytogenetic analysis between January 2004 and March 2009. The overall incidence of chromosomal abnormalities was about 8.2%. Of the 55 patients with abnormal cytogenetic findings sex chromosome aneuploidies were observed in 29 (53%), including Klinefelter syndrome in 27 (49%). Structural chromosome abnormalities involving autosomes (29%) and sex chromosomes (18%) were detected in 26 infertile men. Abnormal cytogenetic findings were observed in 35 of 264 patients (13.3%) with azoospermia and 19 of 365 (5.2%) with oligozoospermia. Structural chromosomal defects and low level sex chromosome mosaicism are common in oligozoospermia cases. Extensive cytogenetic assessment and fluorescence in situ hybridization may improve the detection rate in males with oligozoospermia. These findings highlight the need for efficient genetic testing in infertile men so that couples may make informed decisions on assisted reproductive technologies to achieve parenthood.

Please choose payment method:

(PDF emailed within 0-6 h: $19.90)

Accession: 052269570

Download citation: RISBibTeXText

PMID: 20172548

DOI: 10.1016/j.juro.2009.12.004

Related references

Chromosome aberrations in atypical chronic lymphocytic leukemia: a cytogenetic and interphase cytogenetic study. Leukemia 11(11): 1933-1940, 1997

Cytogenetic investigations of infertile men with low sperm counts: A 25-year experience. Journal of Andrology 23(1): 18-22, 2002

Radiation cytogenetic study of the mechanism of formation of chromosome aberrations in crepis capillaris cells reproduction of aberrations induced by gamma quanta at g 2 stage. Radiobiologiya 26(2): 175-179, 1986

Trisomy 8 as the sole chromosomal aberration in myelocytic malignancies: a comprehensive molecular cytogenetic analysis reveals no cryptic aberrations. Cancer Genetics and Cytogenetics 146(1): 81-83, 2003

Cytogenetic response to therapy and the clonal evolution of additional chromosome aberrations in Ph-positive CML Results of cytogenetic analyses for the German multicenter study. Journal of Molecular Medicine (Berlin) 75(7): B151, 1997

Cytogenetic study in infertile men. Annales de Genetique 46(2-3): 185, September, 2003

Cytogenetic study in 102 infertile men. Urologia Internationalis 61(1): 32-34, 1998

Molecular and cytogenetic studies of 101 infertile men with microdeletions of Y chromosome in 1,306 infertile Korean men. Journal of Assisted Reproduction and Genetics 29(6): 539-546, 2012

Segmental tandem triplication of the MLL gene in an intravascular large B-cell lymphoma with multisystem involvement: a comprehensive morphologic, immunophenotypic, cytogenetic, and molecular cytogenetic antemortem study. Archives of Pathology & Laboratory Medicine 133(9): 1477-1482, 2009

Cytogenetic study in idiopathic infertile males. Journal of the Egyptian Public Health Association 68(1-2): 179-204, 1993

A 73 year old patient with an acute promyelocytic leukemia with complex cytogenetic aberrations and atypical clinical behaviour. Annals of Hematology 73(SUPPL 2): A101, 1996

Primary male infertility in Kuwait: a cytogenetic and molecular study of 289 infertile Kuwaiti patients. Andrologia 39(3): 87-92, 2007

Characterization of chromosomal aberrations in a case of glioblastoma multiforme combining cytogenetic and molecular cytogenetic techniques. Cancer Genetics & Cytogenetics 138(2): 111-115, October 15, 2002