PMID- 38259626
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20240124
IS  - 1664-8021 (Print)
IS  - 1664-8021 (Electronic)
IS  - 1664-8021 (Linking)
VI  - 14
DP  - 2023
TI  - Small supernumerary marker chromosomes in prenatal diagnosis-molecular 
      characterization and clinical outcomes.
PG  - 1326985
LID - 10.3389/fgene.2023.1326985 [doi]
LID - 1326985
AB  - Introduction: Small supernumerary marker chromosomes (sSMCs) are infrequent 
      findings in prenatal diagnostics, however they pose a great challenge for 
      prenatal genetic counseling. Methods: We report prenatal 12 sSMC cases detected 
      in a single center during 10 years period, their molecular characterization by 
      fluorescence in situ hybridization (FISH) or chromosomal microarray (CMA). Those 
      cases were found among 9620 prenatal diagnostic analyzes by GTG-banding 
      technique. In selected cases, additional UPD testing was also done. Results: 
      Incidence of sSMCs in our study was 0.12%. sSMC characterization was done by FISH 
      in 9 cases, in the remainder of three CMA was employed. The most common sSMC 
      shape was centric minute, followed by inverted duplication and one case with ring 
      conformation. sSMCs originating from acrocentric chromosomes (chromosomes 14, 21 
      and 22), sex chromosomes (X, Y) and non-acrocentric autosomal chromosomes 
      (chromosome 4 and 18) were confirmed in 3 cases each; no result could be obtained 
      in 3 further cases. Discussion: No anomalies were detected by prenatal ultrasound 
      in any of the cases. In 58% of the cases, outcome was reported as normal at 
      birth, while anomalies at birth were described in one case. Only two patients 
      opted for pregnancy termination. Preterm labor occurred in case of twin pregnancy 
      resulting in stillbirth and early neonatal death of twins. Overall, our study 
      highlights the importance of a sSMC characterization by molecular cytogenomic 
      methods in order to make appropriate genotype-phenotype correlations and ensure 
      adequate genetic counseling.
CI  - Copyright (c) 2024 Joksic, Toljic, Milacic, Stankovic, Karadzov Orlic and Mikovic.
FAU - Joksic, Ivana
AU  - Joksic I
AD  - Laboratory for Medical Genetics, Gynecology and Obstetrics Clinic "Narodni 
      Front", Belgrade, Serbia.
FAU - Toljic, Mina
AU  - Toljic M
AD  - Laboratory for Medical Genetics, Gynecology and Obstetrics Clinic "Narodni 
      Front", Belgrade, Serbia.
FAU - Milacic, Iva
AU  - Milacic I
AD  - Laboratory for Medical Genetics, Gynecology and Obstetrics Clinic "Narodni 
      Front", Belgrade, Serbia.
FAU - Stankovic, Andjela
AU  - Stankovic A
AD  - Laboratory for Medical Genetics, Gynecology and Obstetrics Clinic "Narodni 
      Front", Belgrade, Serbia.
FAU - Karadzov Orlic, Natasa
AU  - Karadzov Orlic N
AD  - High-Risk Pregnancy Department, Gynecology and Obstetrics Clinic "Narodni Front", 
      Belgrade, Serbia.
AD  - School of Medicine, University of Belgrade, Belgrade, Serbia.
FAU - Mikovic, Zeljko
AU  - Mikovic Z
AD  - High-Risk Pregnancy Department, Gynecology and Obstetrics Clinic "Narodni Front", 
      Belgrade, Serbia.
AD  - School of Medicine, University of Belgrade, Belgrade, Serbia.
LA  - eng
PT  - Journal Article
DEP - 20240108
PL  - Switzerland
TA  - Front Genet
JT  - Frontiers in genetics
JID - 101560621
PMC - PMC10800731
OTO - NOTNLM
OT  - FISH
OT  - chromosomal microarray
OT  - genetic counseling
OT  - prenatal diagnostics
OT  - sSMC
COIS- The authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2024/01/23 12:43
MHDA- 2024/01/23 12:44
PMCR- 2024/01/08
CRDT- 2024/01/23 10:28
PHST- 2023/10/24 00:00 [received]
PHST- 2023/12/12 00:00 [accepted]
PHST- 2024/01/23 12:44 [medline]
PHST- 2024/01/23 12:43 [pubmed]
PHST- 2024/01/23 10:28 [entrez]
PHST- 2024/01/08 00:00 [pmc-release]
AID - 1326985 [pii]
AID - 10.3389/fgene.2023.1326985 [doi]
PST - epublish
SO  - Front Genet. 2024 Jan 8;14:1326985. doi: 10.3389/fgene.2023.1326985. eCollection 
      2023.