PMID- 32256778
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20200928
IS  - 1792-0981 (Print)
IS  - 1792-1015 (Electronic)
IS  - 1792-0981 (Linking)
VI  - 19
IP  - 4
DP  - 2020 Apr
TI  - Molecular cytogenetic characterization of small supernumerary marker 15 in 
      infertile male: A case report.
PG  - 2927-2932
LID - 10.3892/etm.2020.8542 [doi]
AB  - 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.
CI  - Copyright: (c) Sun et al.
FAU - Sun, Meiling
AU  - Sun M
AD  - Center for Reproductive Medicine and Center for Prenatal Diagnosis, The First 
      Hospital, Jilin University, Changchun, Jilin 130021, P.R. China.
AD  - Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin 
      University, Changchun, Jilin 130021, P.R. China.
FAU - Wang, Ruixue
AU  - Wang R
AD  - Center for Reproductive Medicine and Center for Prenatal Diagnosis, The First 
      Hospital, Jilin University, Changchun, Jilin 130021, P.R. China.
AD  - Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin 
      University, Changchun, Jilin 130021, P.R. China.
FAU - Zhang, Hongguo
AU  - Zhang H
AD  - Center for Reproductive Medicine and Center for Prenatal Diagnosis, The First 
      Hospital, Jilin University, Changchun, Jilin 130021, P.R. China.
AD  - Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin 
      University, Changchun, Jilin 130021, P.R. China.
FAU - Jiang, Yuting
AU  - Jiang Y
AD  - Center for Reproductive Medicine and Center for Prenatal Diagnosis, The First 
      Hospital, Jilin University, Changchun, Jilin 130021, P.R. China.
AD  - Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin 
      University, Changchun, Jilin 130021, P.R. China.
FAU - He, Jing
AU  - He J
AD  - Center for Reproductive Medicine and Center for Prenatal Diagnosis, The First 
      Hospital, Jilin University, Changchun, Jilin 130021, P.R. China.
AD  - Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin 
      University, Changchun, Jilin 130021, P.R. China.
FAU - Li, Shibo
AU  - Li S
AD  - Department of Pediatrics, University of Oklahoma Health Sciences Center, 
      Oklahoma, OK 73104, USA.
FAU - Liu, Ruizhi
AU  - Liu R
AD  - Center for Reproductive Medicine and Center for Prenatal Diagnosis, The First 
      Hospital, Jilin University, Changchun, Jilin 130021, P.R. China.
AD  - Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin 
      University, Changchun, Jilin 130021, P.R. China.
LA  - eng
PT  - Journal Article
DEP - 20200221
PL  - Greece
TA  - Exp Ther Med
JT  - Experimental and therapeutic medicine
JID - 101531947
PMC - PMC7086184
OTO - NOTNLM
OT  - chromosomal microarray analysis
OT  - fluorescence in situ hybridization
OT  - intracytoplasmic sperm injection
OT  - male infertility
OT  - oligoasthenoteratozoospermia
OT  - small supernumerary marker chromosomes
EDAT- 2020/04/08 06:00
MHDA- 2020/04/08 06:01
PMCR- 2020/02/21
CRDT- 2020/04/08 06:00
PHST- 2019/06/04 00:00 [received]
PHST- 2020/01/06 00:00 [accepted]
PHST- 2020/04/08 06:00 [entrez]
PHST- 2020/04/08 06:00 [pubmed]
PHST- 2020/04/08 06:01 [medline]
PHST- 2020/02/21 00:00 [pmc-release]
AID - ETM-0-0-8542 [pii]
AID - 10.3892/etm.2020.8542 [doi]
PST - ppublish
SO  - Exp Ther Med. 2020 Apr;19(4):2927-2932. doi: 10.3892/etm.2020.8542. Epub 2020 Feb 
      21.