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

doi:10.3892/etm.2020.8542

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

Authors:
- Meiling Sun
- Ruixue Wang
- Hongguo Zhang
- Yuting Jiang
- Jing He
- Shibo Li
- Ruizhi Liu
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Affiliations: Center for Reproductive Medicine and Center for Prenatal Diagnosis, The First Hospital, Jilin University, Changchun, Jilin 130021, P.R. China, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma, OK 73104, USA
Published online on: February 21, 2020 https://doi.org/10.3892/etm.2020.8542
Pages: 2927-2932
Copyright: © Sun et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

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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