caa a22 4500 445818182 CHVBK 20180317145235.0 cr unu---uuuuu 170323e20111101xx s 000 0 eng 10.1007/s10815-011-9633-6 doi (NATIONALLICENCE)springer-10.1007/s10815-011-9633-6 Clinical diagnostic testing for the cytogenetic and molecular causes of male infertility: the Mayo Clinic experience [Elektronische Daten] [Sean Hofherr, Anne Wiktor, Benjamin Kipp, D. Dawson, Daniel Van Dyke] Purpose: Approximately 8% of couples attempting to conceive are infertile and male infertility accounts for approximately 50% of infertility among couples. Up to 25% of males with non-obstructive infertility have chromosomal abnormalities and/or microdeletions of the long arm of the Y-chromosome. These are detected by conventional chromosome and Y-microdeletion analysis. In this study, we reviewed the results of testing performed in the Mayo Clinic Cytogenetics and Molecular Genetics Laboratories and compared our findings with previously published reports. Methods: This study includes 2,242 chromosome studies from males ≥18years of age referred for infertility between 1989 and 2000 and 2,749 Y-deletion molecular studies performed between 2002 and 2009. Results: 14.3% of infertile males tested by karyotyping had abnormalities identified. These include: (258) 47,XXY and variants consistent with Klinefelter syndrome, (3) combined 47,XXY and balanced autosomal rearrangements, (9) 47,XYY, (9) Y-deletions, (7) 46,XX males, (32) balanced rearrangements, and (1) unbalanced rearrangement. 3.6% of males tested for Y-microdeletion analysis had abnormalities identified, 90% of which included a deletion of the AZFc region. Conclusions: This study highlights the need of males suffering from non-obstructive infertility to have laboratory genetic testing performed. An abnormal finding can have significant consequences to assisted reproductive techniques and fertility treatment, and provide a firm diagnosis to couples with longstanding infertility. Springer Science+Business Media, LLC, 2011 Male infertility nationallicence Y-microdeletion nationallicence Chromosome nationallicence Klinefelter syndrome nationallicence AZF nationallicence Karyotype nationallicence Azoospermia nationallicence Oligozoospermia nationallicence Hofherr Sean Clinical Biochemical Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, 200 First St. SW, 55902, Rochester, MN, USA aut Wiktor Anne Clinical Cytogenetics, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, 200 First St. SW, 55902, Rochester, MN, USA aut Kipp Benjamin Anatomic Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, 200 First St. SW, 55902, Rochester, MN, USA aut Dawson D. Clinical Molecular Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, 200 First St. SW, 55902, Rochester, MN, USA aut Van Dyke Daniel Clinical Cytogenetics, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, 200 First St. SW, 55902, Rochester, MN, USA aut Journal of Assisted Reproduction and Genetics Springer US; http://www.springer-ny.com 28/11(2011-11-01), 1091-1098 1058-0468 28:11<1091 2011 28 10815 https://doi.org/10.1007/s10815-011-9633-6 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10815-011-9633-6 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Hofherr Sean Clinical Biochemical Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, 200 First St. SW, 55902, Rochester, MN, USA aut NATIONALLICENCE 700 1- Wiktor Anne Clinical Cytogenetics, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, 200 First St. SW, 55902, Rochester, MN, USA aut NATIONALLICENCE 700 1- Kipp Benjamin Anatomic Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, 200 First St. SW, 55902, Rochester, MN, USA aut NATIONALLICENCE 700 1- Dawson D. Clinical Molecular Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, 200 First St. SW, 55902, Rochester, MN, USA aut NATIONALLICENCE 700 1- Van Dyke Daniel Clinical Cytogenetics, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, 200 First St. SW, 55902, Rochester, MN, USA aut NATIONALLICENCE 773 0- Journal of Assisted Reproduction and Genetics Springer US; http://www.springer-ny.com 28/11(2011-11-01), 1091-1098 1058-0468 28:11<1091 2011 28 10815 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer