SynthesisJournal of assisted reproduction and genetics2011
Clinical diagnostic testing for the cytogenetic and molecular causes of male infertility: the Mayo Clinic experience.
Synthesis in Journal of assisted reproduction and genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
26 citing papers in PubMed, 58 citations in OpenAlex.
- Genetic landscape of male infertility: chromosomal abnormalities and Y chromosome microdeletions in a Turkish cohort (1 314 Cases).Human genetics · 2026Article
- Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements.Frontiers in genetics · 2025Article
- Combination of trio-based whole exome sequencing and optical genome mapping reveals a cryptic balanced translocation that causes unbalanced chromosomal rearrangements in a family with multiple anomalies.Frontiers in genetics · 2023Article
- Analysis of chromosomal structural variations in patients with recurrent spontaneous abortion using optical genome mapping.Frontiers in genetics · 2023Article
- Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics.Molecular genetics & genomic medicine · 2022Article
- Case Report: Balanced Reciprocal Translocation t (17; 22) (p11.2; q11.2) and 10q23.31 Microduplication in an Infertile Male Patient Suffering From Teratozoospermia.Frontiers in genetics · 2022Article
- Optical genome mapping enables constitutional chromosomal aberration detection.American journal of human genetics · 2021Article
- Lower total motile count is associated with smaller historic intergenerational family size: a pedigree analysis from the Utah Population Database.Journal of assisted reproduction and genetics · 2021Article
- Male infertility due to testicular disorders.The Journal of clinical endocrinology and metabolism · 2021Review
- Testicular function in boys with 47,XYY and relationship to phenotype.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Article
- Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Review
- Harnessing the full potential of reproductive genetics and epigenetics for male infertility in the era of "big data".Fertility and sterility · 2020Review
- Molecular and cytogenetic analysis of infertile Hakka men with azoospermia and severe oligozoospermia in southern China.The Journal of international medical research · 2019Observational
- 46 XX male syndrome with hypogonadotropic hypogonadism: A case report.Northern clinics of Istanbul · 2019Article
- Multicenter study of genetic abnormalities associated with severe oligospermia and non-obstructive azoospermia.The Journal of international medical research · 2018Article
- Duplication of Yq- and proximal Yp-arms with deletion of almost all PAR1 (including SHOX) in a young man with non-obstructive azoospermia, short stature and skeletal defects.Journal of applied genetics · 2017Article
- Gene Scanning for Microdeletions in the Azoospermia Factor Region of Y-Chromosome in Infertile Men of Gujarat, India.Journal of clinical and diagnostic research : JCDR · 2017Article
- Induced pluripotent stem cell generation from a man carrying a complex chromosomal rearrangement as a genetic model for infertility studies.Scientific reports · 2017Article
- Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory.European journal of human genetics : EJHG · 2014Article
- Testicular tissue cryopreservation and spermatogonial stem cell transplantation to restore fertility: from bench to bedside.Stem cell research & therapy · 2014Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeApproximately 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.
methodsThis study includes 2,242 chromosome studies from males ≥18 years of age referred for infertility between 1989 and 2000 and 2,749 Y-deletion molecular studies performed between 2002 and 2009.
results14.3% 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.
conclusionsThis 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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.