PMID- 29606906
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20231112
IS  - 1389-2029 (Print)
IS  - 1875-5488 (Electronic)
IS  - 1389-2029 (Linking)
VI  - 19
IP  - 3
DP  - 2018 Apr
TI  - Small Supernumerary Marker Chromosome May Provide Information on 
      Dosage-insensitive Pericentric Regions in Human.
PG  - 192-199
LID - 10.2174/1389202918666170717163830 [doi]
AB  - BACKGROUND: Cytogenetically visible chromosomal imbalances in humans are 
      deleterious and adverse in the majority of the cases. However, healthy persons 
      living with chromosomal imbalances in the range of several megabasepairs (Mbps) 
      in size, like carriers of small Supernumerary Marker Chromosomes (sSMCs) exist. 
      MATERIALS & METHODS: The identification of healthy sSMC carriers with euchromatic 
      centromere-near (ECN) imbalances led to the following proposal: ECN-regions do 
      not contain any dosage sensitive genes. Due to own previous work, 
      dosage-insensitive pericentric ECN-regions were already determined with an 
      accuracy of 0.3 and 5 Mbp. Based on this data we established 43 new 
      pericentromeric probe sets spanning about 3-5 Mbp of each euchromatic human 
      chromosome arm starting from the known insensitive regions towards distal. Such 
      so called pericentromeric-critical region fluorescence in situ hybridization 
      (PeCR-FISH) probe sets were applied exemplarily and successful here in 15 sSMC 
      cases as available from the Else Kroner-Fresenius-sSMC-cellbank 
      <http://ssmc-tl.com/ekf-cellbank.html>. CONCLUSION: Most of the involved sSMC 
      breakpoints could be characterized as a higher resolution than before. An 
      unexpected result was that in 5/15 cases cryptic mosaicism was characterized. The 
      latter is also to be considered to have potentially an influence on the clinical 
      outcome in these so-called discontinuous sSMCs. Overall, the suitability of 
      PeCR-FISH to characterize sSMCs was proven; the potential of this probe set to 
      further delineate sizes of dosage insensitive pericentric regions is obvious but 
      dependent on suited cases. Furthermore, discontinuous sSMCs can be identified by 
      this approach and this new subtype of sSMC needs to be studied in more detail in 
      future.
FAU - Al-Rikabi, Ahmed B Hamid
AU  - Al-Rikabi ABH
AD  - Jena University Hospital, Friedrich Schiller University, Institute of Human 
      Genetics, Am Klinikum 1, 07747Jena, Germany.
FAU - Pekova, Sona
AU  - Pekova S
AD  - Synlab Genetics s.r.o., Evropska 176/16, 16000 Prague 6, Czech Republic.
FAU - Fan, Xioabo
AU  - Fan X
AD  - Jena University Hospital, Friedrich Schiller University, Institute of Human 
      Genetics, Am Klinikum 1, 07747Jena, Germany.
FAU - Jancuskova, Tereza
AU  - Jancuskova T
AD  - Synlab Genetics s.r.o., Evropska 176/16, 16000 Prague 6, Czech Republic.
FAU - Liehr, Thomas
AU  - Liehr T
AD  - Jena University Hospital, Friedrich Schiller University, Institute of Human 
      Genetics, Am Klinikum 1, 07747Jena, Germany.
LA  - eng
PT  - Journal Article
PL  - United Arab Emirates
TA  - Curr Genomics
JT  - Current genomics
JID - 100960527
PMC - PMC5850507
OTO - NOTNLM
OT  - Discontinuous sSMCs
OT  - Dosage insensitive genomic regions
OT  - Euchromatic centromere-near imbalances
OT  - Molecular cytogenetics
OT  - Pericentromeric-critical Region Fluorescence In Situ Hybridization (PeCR-FISH)
OT  - Small Supernumerary Marker Chromosomes (sSMCs)
EDAT- 2018/04/03 06:00
MHDA- 2018/04/03 06:01
PMCR- 2018/10/01
CRDT- 2018/04/03 06:00
PHST- 2016/10/15 00:00 [received]
PHST- 2016/11/18 00:00 [revised]
PHST- 2017/01/20 00:00 [accepted]
PHST- 2018/04/03 06:00 [entrez]
PHST- 2018/04/03 06:00 [pubmed]
PHST- 2018/04/03 06:01 [medline]
PHST- 2018/10/01 00:00 [pmc-release]
AID - CG-19-192 [pii]
AID - 10.2174/1389202918666170717163830 [doi]
PST - ppublish
SO  - Curr Genomics. 2018 Apr;19(3):192-199. doi: 10.2174/1389202918666170717163830.