ArticleJournal of assisted reproduction and genetics2012
Normal sperm in a 2;2 homologous male translocation carrier.
Article in Journal of assisted reproduction and genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 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
4 citing papers in PubMed, 5 citations in OpenAlex.
- Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangements.Molecular cytogenetics · 2016Review
- Relevance of genetic investigation in male infertility.Journal of endocrinological investigation · 2014Review
- Chromosome aberrations and spermatogenic disorders in mice with Robertsonian translocation (11; 13).International journal of clinical and experimental pathology · 2014Article
- Reproductive outcomes in men with karyotype abnormalities: Case report and review of the literature.Canadian Urological Association journal = Journal de l'Association des urologues du CanadaArticle
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeCarriers of balanced structural chromosomal abnormalities are phenotypically normal but are at high risk of infertility. Translocations usually occur between two non-homologous chromosomes. When occur between homologous chromosomes, an extremely rare event, generally involve acrocentric chromosomes. We present an infertile male referred for genetic analysis with a pure balanced homologous 2;2 translocation and normal sperm in the ejaculate.
methodsConventional cytogenetic and fluorescence in situ hybridization (FISH) were used in karyotype and sperm analysis, respectively.
resultsMale's karyotype revealed a pure balanced translocation involving homologous chromosomes 2: 46,XY,t(2;2)(p23;q21.2). Sperm analysis by FISH revealed the presence of 15.8 % of normal and 84.2 % of abnormal spermatozoa for chromosome 2.
conclusionsThis is the first report of confined gonadal mosaicism in a pure homologous non-acrocentric chromosome translocation carrier. Preimplantation genetic diagnosis for chromosome 2 should be offered as a reproductive option.
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Registered trials
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