ArticleMedicine2019
Molecular cytogenetic characterization of a mosaic small supernumerary marker chromosome derived from chromosome Y in an azoospermic male: A case report.
Article in Medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 16p13.11 microduplications.Medicine · 2026Article
- Prenatal diagnosis of distal Xq28 duplication syndrome: case reports and literature review.Molecular cytogenetics · 2026Article
- Molecular cytogenetic studies of a male carrier with a unique (Y;14) translocation: Case report.Journal of clinical laboratory analysis · 2021Article
- Prenatal detection of terminal 9p24.3 microduplication encompassing DOCK8 gene: A variant of likely benign.Medicine · 2021Article
- Prenatal detection and molecular cytogenetic characterization of 19q13.42 microduplication: three reported cases and literature review.Molecular cytogenetics · 2021Article
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- Article
- Prenatal Diagnosis and Molecular Cytogenetic Characterization of Copy Number Variations on 4p15.2p16.3, Xp22.31, and 12p11.1q11 in a Fetus with Ultrasound Anomalies: A Case Report and Literature Review.BioMed research international · 2020Review
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7 authors.
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Abstract
rationaleSmall supernumerary marker chromosomes (sSMCs) can be usually discovered in the patients with mental retardation, infertile couples, and prenatal fetus. We aim to characterize the sSMC and explore the correlation between with sSMC and male infertility. PATIENT CONCERNS: A 26-year-old Chinese male was referred for infertility consultation in our center after 1 year of regular unprotected coitus and no pregnancy. DIAGNOSIS: Cytogenetic G-banding analysis initially described a mosaic karyotype 47,X,Yqh-,+mar[28]/46,X,Yqh-[22] for the proband, while his father showed a normal karyotype. The chromosome microarray (CMA) analysis showed there existed a duplication of Yp11.32q11.221, a deletion of Yq11.222q12, a duplication of 20p11.1 for the patient. Azoospermia factor (AZF) microdeletion analysis for the patient showed that he presented a de novo AZFb+c deletion. Fluorescence in situ hybridization further confirmed the sSMC was an sSMC(Y) with SRY signal, Y centromere, and Yq deletion.
interventionsThe patient would choose artificial reproductive technology to get his offspring according to the genetic counseling. OUTCOMES: The sSMC in our patient was proved to be an sSMC(Y), derived from Yq deletion. The spermatogenesis failure of the proband might be due to the synthetic action of sSMC(Y) mosaicism and AZFb+c microdeletion. LESSONS: It is nearly impossible to detect the chromosomal origin of sSMC through traditional banding techniques. The molecular cytogenetic characterization could be performed for identification of sSMC so that comprehensive genetic counseling would be offered.
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