PMID- 29564819
OWN - NLM
STAT- MEDLINE
DCOM- 20190211
LR  - 20190215
IS  - 1940-6029 (Electronic)
IS  - 1064-3745 (Linking)
VI  - 1769
DP  - 2018
TI  - Chromothripsis Detectable in Small Supernumerary Marker Chromosomes (sSMC) Using 
      Fluorescence In Situ Hybridization (FISH).
PG  - 79-84
LID - 10.1007/978-1-4939-7780-2_6 [doi]
AB  - The formation of small supernumerary marker chromosomes (sSMC) still remains 
      enigmatic. However, it is suggested that majority of all kinds of de novo sSMC 
      (inverted duplication-, ring-, and centric-minute-shaped ones) are products of 
      incomplete trisomic rescue during early embryogenesis. Recent work, based on 
      molecular cytogenetics, suggests that these trisomic rescue events are going 
      together with chromothripsis, directed against the supernumerary chromosome to be 
      degraded. Here we present a protocol how to characterize so-called discontinuous 
      sSMC by means of fluorescence in situ hybridization (FISH).
FAU - Liehr, Thomas
AU  - Liehr T
AD  - Institute of Human Genetics, Jena University Hospital, Friedrich Schiller 
      University, Jena, Germany. Thomas.Liehr@med.uni-jena.de.
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Methods Mol Biol
JT  - Methods in molecular biology (Clifton, N.J.)
JID - 9214969
RN  - 0 (DNA Probes)
RN  - 0 (Genetic Markers)
SB  - IM
MH  - *Chromosome Aberrations
MH  - Chromosomes, Artificial, Bacterial
MH  - *Chromothripsis
MH  - DNA Probes
MH  - Genetic Loci
MH  - *Genetic Markers
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
OTO - NOTNLM
OT  - Chromothripsis
OT  - Early embryogenesis
OT  - Incomplete trisomic rescue
OT  - Molecular cytogenetics fluorescence in situ hybridization (FISH)
OT  - Small supernumerary marker chromosomes (sSMC)
EDAT- 2018/03/23 06:00
MHDA- 2019/02/12 06:00
CRDT- 2018/03/23 06:00
PHST- 2018/03/23 06:00 [entrez]
PHST- 2018/03/23 06:00 [pubmed]
PHST- 2019/02/12 06:00 [medline]
AID - 10.1007/978-1-4939-7780-2_6 [doi]
PST - ppublish
SO  - Methods Mol Biol. 2018;1769:79-84. doi: 10.1007/978-1-4939-7780-2_6.