PMID- 30774715
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20231005
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 12
DP  - 2019
TI  - Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH 
      and array CGH characterization.
PG  - 5
LID - 10.1186/s13039-019-0414-8 [doi]
LID - 5
AB  - BACKGROUND: Small Supernumerary Marker Chromosomes (sSMC) are rare chromosomal 
      abnormalities, which have abnormal banding arrangement and take many shapes. 
      Several disorders have been correlated with sSMC presence. The aim of this study 
      is to characterize the sSMC derived from chromosome 18 by Fluorescence in situ 
      hybridization (FISH) and Array Comparative Genomic Hybridization (aCGH). RESULTS: 
      Nine children with dysmorphic features have been investigated. They have these 
      features in common: a triangular face, low-set ears, a large mouth with a thin 
      upper lip, and a horizontal palpebral fissure. Epicanthus and strabismus were 
      present in two patients. In addition, we have noticed microcephaly and mental 
      and/or developmental delay with low birth weight. However, two patients had 
      standard birth weight; one patient had hypospadias; two had skin problems; and 
      three showed different congenital heart defects. One patient had corpus callosum 
      hypoplasia. Systematic karyotype analysis revealed a de novo supernumerary 
      chromosome. Array CGH showed a gain in copy number on the short arm of chromosome 
      18 in the nine cases. In one case, the sSMC seemed to be in mosaic. The 
      breakpoints of the marker were identified using aCGH and FISH. Thus, the sSMC led 
      to 18p tetrasomy with approximately 14 Mb lengths, between 364344 and 14763575 
      based on the human genome version 18. CONCLUSIONS: These results have been 
      completed by FISH in order to ascertain the shape of the sSMC. Our results 
      confirm the uniqueness and particularity of the iso18p syndrome on the phenotypic 
      as well as on the genetic level.
FAU - Slimani, Wafa
AU  - Slimani W
AD  - 1Laboratory of Human cytogenetics, Molecular Genetics and Biology of 
      Reproduction, Farhat Hached University Hospital, Sousse, Tunisia. GRID: 
      grid.412791.8
FAU - Ben Khelifa, Hela
AU  - Ben Khelifa H
AD  - 1Laboratory of Human cytogenetics, Molecular Genetics and Biology of 
      Reproduction, Farhat Hached University Hospital, Sousse, Tunisia. GRID: 
      grid.412791.8
FAU - Dimassi, Sarra
AU  - Dimassi S
AD  - 1Laboratory of Human cytogenetics, Molecular Genetics and Biology of 
      Reproduction, Farhat Hached University Hospital, Sousse, Tunisia. GRID: 
      grid.412791.8
FAU - Chioukh, Fatma-Zohra
AU  - Chioukh FZ
AD  - Neonatology Department, Hospital of Fattouma Bourguiba, Monastir, Tunisia.
FAU - Jelloul, Afef
AU  - Jelloul A
AD  - 1Laboratory of Human cytogenetics, Molecular Genetics and Biology of 
      Reproduction, Farhat Hached University Hospital, Sousse, Tunisia. GRID: 
      grid.412791.8
FAU - Kammoun, Molka
AU  - Kammoun M
AD  - 1Laboratory of Human cytogenetics, Molecular Genetics and Biology of 
      Reproduction, Farhat Hached University Hospital, Sousse, Tunisia. GRID: 
      grid.412791.8
FAU - Hannachi, Hanene
AU  - Hannachi H
AD  - 1Laboratory of Human cytogenetics, Molecular Genetics and Biology of 
      Reproduction, Farhat Hached University Hospital, Sousse, Tunisia. GRID: 
      grid.412791.8
FAU - Bouslah, Sarra
AU  - Bouslah S
AD  - 3Pediatric department, Farhat Hached University Hospital, Sousse, Tunisia. GRID: 
      grid.412791.8
FAU - Jammali, Nesrine
AU  - Jammali N
AD  - 4Department of Child psychiatry, Fattouma Bourguiba Hospital, Monastir, Tunisia. 
      GRID: grid.420157.5
FAU - Sanlaville, Damien
AU  - Sanlaville D
AD  - 5Centre de Biologie et Pathologie Est, CHU de Lyon HCL, Lyon, France. ISNI: 0000 
      0001 2163 3825. GRID: grid.413852.9
FAU - Saad, Ali
AU  - Saad A
AD  - 1Laboratory of Human cytogenetics, Molecular Genetics and Biology of 
      Reproduction, Farhat Hached University Hospital, Sousse, Tunisia. GRID: 
      grid.412791.8
AD  - 6Universite de Sousse, Faculte de Medecine de Sousse, Hopital Farhat Hached, 
      UR035P2, 4000 Sousse, Tunisia. GRID: grid.412791.8
FAU - Mougou-Zerelli, Soumaya
AU  - Mougou-Zerelli S
AD  - 1Laboratory of Human cytogenetics, Molecular Genetics and Biology of 
      Reproduction, Farhat Hached University Hospital, Sousse, Tunisia. GRID: 
      grid.412791.8
AD  - 6Universite de Sousse, Faculte de Medecine de Sousse, Hopital Farhat Hached, 
      UR035P2, 4000 Sousse, Tunisia. GRID: grid.412791.8
LA  - eng
PT  - Journal Article
DEP - 20190208
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC6368812
OTO - NOTNLM
OT  - Array CGH
OT  - FISH
OT  - Small supernumerary chromosome marker
OT  - Tetrasomy 18p
COIS- The local Ethics Board of the University Teaching Hospital Farhat Hached approved 
      the present study (IRB00008931) and written consents were taken from the parents 
      for photo publication.The local Ethics Board approved the present study 
      (IRB00008931) and written consents were taken from the parents for photo 
      publication.The authors declare that they have no competing interests.Springer 
      Nature remains neutral with regard to jurisdictional claims in published maps and 
      institutional affiliations.
EDAT- 2019/02/19 06:00
MHDA- 2019/02/19 06:01
PMCR- 2019/02/08
CRDT- 2019/02/19 06:00
PHST- 2018/11/20 00:00 [received]
PHST- 2019/01/15 00:00 [accepted]
PHST- 2019/02/19 06:00 [entrez]
PHST- 2019/02/19 06:00 [pubmed]
PHST- 2019/02/19 06:01 [medline]
PHST- 2019/02/08 00:00 [pmc-release]
AID - 414 [pii]
AID - 10.1186/s13039-019-0414-8 [doi]
PST - epublish
SO  - Mol Cytogenet. 2019 Feb 8;12:5. doi: 10.1186/s13039-019-0414-8. eCollection 2019.