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Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report

Small supernumerary marker chromosomes (sSMCs) are defined as structurally abnormal chromosomes that may be detected pre- or postnataly in patients with developmental and/or mental retardation or infertility. sSMC on chromosome 15 accounts for the highest proportion of all sSMCs and may be detected...

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Autores principales: Sun, Meiling, Wang, Ruixue, Zhang, Hongguo, Jiang, Yuting, He, Jing, Li, Shibo, Liu, Ruizhi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7086184/
https://www.ncbi.nlm.nih.gov/pubmed/32256778
http://dx.doi.org/10.3892/etm.2020.8542
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author Sun, Meiling
Wang, Ruixue
Zhang, Hongguo
Jiang, Yuting
He, Jing
Li, Shibo
Liu, Ruizhi
author_facet Sun, Meiling
Wang, Ruixue
Zhang, Hongguo
Jiang, Yuting
He, Jing
Li, Shibo
Liu, Ruizhi
author_sort Sun, Meiling
collection PubMed
description Small supernumerary marker chromosomes (sSMCs) are defined as structurally abnormal chromosomes that may be detected pre- or postnataly in patients with developmental and/or mental retardation or infertility. sSMC on chromosome 15 accounts for the highest proportion of all sSMCs and may be detected in subfertile individuals. The present study reports the case of a male patient with oligoasthenoteratozoospermia and an sSMC. The sSMC was identified and characterized according to G-banding analysis, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) analysis. Chromosomal karyotype analysis suggested that the patient presented with 47,XY,+mar. CMA was used to characterize the sSMC, which revealed a 0.44-Mb microduplication in 6q25.3q26. Subsequently, FISH using centromere-specific probes for chromosomes 13/21, 14/22 and 15 was applied to identify the origin of the sSMC, which was finally determined to be inverted duplicated(15)(q11.2). It was hypothesized that heterochromatin in the sSMC is responsible for the patient's fertility problem. The presence of heterochromatin may disrupt regular meiosis, thereby affecting normal spermatogenesis. Impaired spermatogenesis in infertile males with an sSMC derived from chromosome 15 was also reviewed by searching published literature and the sSMC database (http://ssmc-tl.com/sSMC.html). For patients with low sperm parameters and complete absence of spermatozoa in the ejaculate, including infertile males with an sSMC with spermatozoa, intracytoplasmic sperm injection is considered as an effective assisted reproductive technique. It may be concluded that molecular cytogenetic techniques are critical tools for delineating sSMCs in infertile males and may be beneficial in identifying sSMC carriers to ensure they receive clinical genetic counseling.
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spelling pubmed-70861842020-04-02 Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report Sun, Meiling Wang, Ruixue Zhang, Hongguo Jiang, Yuting He, Jing Li, Shibo Liu, Ruizhi Exp Ther Med Articles Small supernumerary marker chromosomes (sSMCs) are defined as structurally abnormal chromosomes that may be detected pre- or postnataly in patients with developmental and/or mental retardation or infertility. sSMC on chromosome 15 accounts for the highest proportion of all sSMCs and may be detected in subfertile individuals. The present study reports the case of a male patient with oligoasthenoteratozoospermia and an sSMC. The sSMC was identified and characterized according to G-banding analysis, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) analysis. Chromosomal karyotype analysis suggested that the patient presented with 47,XY,+mar. CMA was used to characterize the sSMC, which revealed a 0.44-Mb microduplication in 6q25.3q26. Subsequently, FISH using centromere-specific probes for chromosomes 13/21, 14/22 and 15 was applied to identify the origin of the sSMC, which was finally determined to be inverted duplicated(15)(q11.2). It was hypothesized that heterochromatin in the sSMC is responsible for the patient's fertility problem. The presence of heterochromatin may disrupt regular meiosis, thereby affecting normal spermatogenesis. Impaired spermatogenesis in infertile males with an sSMC derived from chromosome 15 was also reviewed by searching published literature and the sSMC database (http://ssmc-tl.com/sSMC.html). For patients with low sperm parameters and complete absence of spermatozoa in the ejaculate, including infertile males with an sSMC with spermatozoa, intracytoplasmic sperm injection is considered as an effective assisted reproductive technique. It may be concluded that molecular cytogenetic techniques are critical tools for delineating sSMCs in infertile males and may be beneficial in identifying sSMC carriers to ensure they receive clinical genetic counseling. D.A. Spandidos 2020-04 2020-02-21 /pmc/articles/PMC7086184/ /pubmed/32256778 http://dx.doi.org/10.3892/etm.2020.8542 Text en Copyright: © Sun et al. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License (https://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
spellingShingle Articles
Sun, Meiling
Wang, Ruixue
Zhang, Hongguo
Jiang, Yuting
He, Jing
Li, Shibo
Liu, Ruizhi
Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report
title Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report
title_full Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report
title_fullStr Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report
title_full_unstemmed Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report
title_short Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report
title_sort molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: a case report
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7086184/
https://www.ncbi.nlm.nih.gov/pubmed/32256778
http://dx.doi.org/10.3892/etm.2020.8542
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