PMID- 32399795
OWN - NLM
STAT- MEDLINE
DCOM- 20210310
LR  - 20231111
IS  - 1573-7330 (Electronic)
IS  - 1058-0468 (Print)
IS  - 1058-0468 (Linking)
VI  - 37
IP  - 7
DP  - 2020 Jul
TI  - Small supernumerary marker chromosomes (sSMC) and male infertility: 
      characterization of five new cases, review of the literature, and perspectives.
PG  - 1729-1736
LID - 10.1007/s10815-020-01811-9 [doi]
AB  - PURPOSE: To characterize small supernumerary marker chromosomes (sSMC) in 
      infertile males RESEARCH QUESTION: Are molecular cytogenetic methods still 
      relevant for the identification and characterization of sSMC in the era of 
      next-generation sequencing? METHODS: In this paper, we report five males with 
      oligoasthenozoospermia or azoospermia with a history of recurrent pregnancy loss 
      in partnership in four cases. R-banding karyotyping and fluorescence in situ 
      hybridization (FISH) analysis were performed and showed sSMC in all five cases. 
      Microdissection and reverse-FISH were performed in one case. RESULTS: One sSMC, 
      each, was derived from chromosome 15 and an X-chromosome; two sSMC were 
      derivatives of chromosome 22. The fifth sSMC was a ring chromosome 4 complemented 
      by a deletion of the same region 4p14 to 4p16.1 in one of the normal chromosomes 
      4. All markers were mosaics except one of sSMC(22). CONCLUSION: Through this 
      study, we emphasize the necessity of a proper combination of high-throughput 
      techniques with conventional cytogenetic and FISH methods. This could provide a 
      personalized diagnostic and accurate results for the patients suffering from 
      infertility or RPL. We also highlight FISH analyses, which are essential tools 
      for detecting sSMC in infertile patients. In fact, despite its entire composition 
      of heterochromatin, sSMC can have effects on spermatogenesis by producing 
      mechanical perturbations during meiosis and increasing meiotic nondisjunction 
      rate. This would contribute to understand the exact chromosomal mechanism 
      disrupting the natural and the assisted reproduction leading to offer a 
      personalized support.
FAU - Slimani, Wafa
AU  - Slimani W
AUID- ORCID: 0000-0003-1312-1090
AD  - Department of Cytogenetics and Reproductive Biology, Farhat Hached University 
      Hospital, Sousse, Tunisia.
AD  - Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir, 
      Tunisia.
AD  - Unite de Services Communs en Genetique Humaine, Universite de Sousse, Faculte de 
      Medecine de Sousse, Sousse, Tunisia.
FAU - Jelloul, Afef
AU  - Jelloul A
AD  - Department of Cytogenetics and Reproductive Biology, Farhat Hached University 
      Hospital, Sousse, Tunisia.
FAU - Al-Rikabi, Ahmed
AU  - Al-Rikabi A
AD  - Institute of Human Genetics, Jena, Germany.
FAU - Sallem, Amira
AU  - Sallem A
AD  - Department of Cytogenetics and Reproductive Biology, Farhat Hached University 
      Hospital, Sousse, Tunisia.
FAU - Hasni, Yosra
AU  - Hasni Y
AD  - Department of Endocrinology-Diabetology, Farhat Hached University Hospital, 
      Sousse, Tunisia.
FAU - Chachia, Salma
AU  - Chachia S
AD  - Department of Obstetrics and Gynecology, Farhat Hached University Hospital, 
      Sousse, Tunisia.
FAU - Ernez, Adel
AU  - Ernez A
AD  - Private Gynecologist, Sousse, Tunisia.
FAU - Chaieb, Anouar
AU  - Chaieb A
AD  - Department of Obstetrics and Gynecology, Farhat Hached University Hospital, 
      Sousse, Tunisia.
FAU - Bibi, Mohamed
AU  - Bibi M
AD  - Department of Obstetrics and Gynecology, Farhat Hached University Hospital, 
      Sousse, Tunisia.
FAU - Liehr, Thomas
AU  - Liehr T
AD  - Institute of Human Genetics, Jena, Germany.
FAU - Saad, Ali
AU  - Saad A
AD  - Department of Cytogenetics and Reproductive Biology, Farhat Hached University 
      Hospital, Sousse, Tunisia.
AD  - Unite de Services Communs en Genetique Humaine, Universite de Sousse, Faculte de 
      Medecine de Sousse, Sousse, Tunisia.
FAU - Mougou-Zerelli, Soumaya
AU  - Mougou-Zerelli S
AD  - Department of Cytogenetics and Reproductive Biology, Farhat Hached University 
      Hospital, Sousse, Tunisia. mougousoumaya@yahoo.fr.
AD  - Unite de Services Communs en Genetique Humaine, Universite de Sousse, Faculte de 
      Medecine de Sousse, Sousse, Tunisia. mougousoumaya@yahoo.fr.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
DEP - 20200512
PL  - Netherlands
TA  - J Assist Reprod Genet
JT  - Journal of assisted reproduction and genetics
JID - 9206495
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Abortion, Habitual/*genetics
MH  - Adult
MH  - Azoospermia/genetics
MH  - Chromosome Banding
MH  - *Chromosomes, Human
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - *Genetic Markers
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Infertility, Male/*genetics
MH  - Male
MH  - Middle Aged
PMC - PMC7376793
OTO - NOTNLM
OT  - Aneuploidy
OT  - Fluorescence in situ hybridization (FISH)
OT  - Infertility
OT  - Small supernumerary marker chromosomes (sSMC)
OT  - Spermatogenesis
EDAT- 2020/05/14 06:00
MHDA- 2021/03/11 06:00
PMCR- 2021/07/01
CRDT- 2020/05/14 06:00
PHST- 2020/01/11 00:00 [received]
PHST- 2020/05/06 00:00 [accepted]
PHST- 2020/05/14 06:00 [pubmed]
PHST- 2021/03/11 06:00 [medline]
PHST- 2020/05/14 06:00 [entrez]
PHST- 2021/07/01 00:00 [pmc-release]
AID - 10.1007/s10815-020-01811-9 [pii]
AID - 1811 [pii]
AID - 10.1007/s10815-020-01811-9 [doi]
PST - ppublish
SO  - J Assist Reprod Genet. 2020 Jul;37(7):1729-1736. doi: 10.1007/s10815-020-01811-9. 
      Epub 2020 May 12.