PMID- 18471318
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20110714
LR  - 20211020
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 1
DP  - 2008 Apr 15
TI  - Complex rearranged small supernumerary marker chromosomes (sSMC), three new 
      cases; evidence for an underestimated entity?
PG  - 6
LID - 10.1186/1755-8166-1-6 [doi]
AB  - BACKGROUND: Small supernumerary marker chromosomes (sSMC) are present ~2.6 x 106 
      human worldwide. sSMC are a heterogeneous group of derivative chromosomes 
      concerning their clinical consequences as well as their chromosomal origin and 
      shape. Besides the sSMC present in Emanuel syndrome, i.e. 
      der(22)t(11;22)(q23;q11), only few so-called complex sSMC are reported. RESULTS: 
      Here we report three new cases of unique complex sSMC. One was a de novo case 
      with a dic(13 or 21;22) and two were maternally derived: a der(18)t(8;18) and a 
      der(13 or 21)t(13 or 21;18). Thus, in summary, now 22 cases of unique complex 
      sSMC are available in the literature. However, this special kind of sSMC might be 
      under-diagnosed among sSMC-carriers. CONCLUSION: More comprehensive 
      characterization of sSMC and approaches like reverse fluorescence in situ 
      hybridization (FISH) or array based comparative genomic hybridization (array-CGH) 
      might identify them to be more frequent than only ~0.9% among all sSMC.
FAU - Trifonov, Vladimir
AU  - Trifonov V
AD  - Institut fur Humangenetik und Anthropologie, Kollegiengasse 10, D-07743 Jena, 
      Germany. i8lith@mti.uni-jena.de.
FAU - Fluri, Simon
AU  - Fluri S
FAU - Binkert, Franz
AU  - Binkert F
FAU - Nandini, Adayapalam
AU  - Nandini A
FAU - Anderson, Jasen
AU  - Anderson J
FAU - Rodriguez, Laura
AU  - Rodriguez L
FAU - Gross, Madeleine
AU  - Gross M
FAU - Kosyakova, Nadezda
AU  - Kosyakova N
FAU - Mkrtchyan, Hasmik
AU  - Mkrtchyan H
FAU - Ewers, Elisabeth
AU  - Ewers E
FAU - Reich, Daniela
AU  - Reich D
FAU - Weise, Anja
AU  - Weise A
FAU - Liehr, Thomas
AU  - Liehr T
LA  - eng
PT  - Journal Article
DEP - 20080415
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC2375881
EDAT- 2008/05/13 09:00
MHDA- 2008/05/13 09:01
PMCR- 2008/04/15
CRDT- 2008/05/13 09:00
PHST- 2007/11/20 00:00 [received]
PHST- 2008/04/15 00:00 [accepted]
PHST- 2008/05/13 09:00 [pubmed]
PHST- 2008/05/13 09:01 [medline]
PHST- 2008/05/13 09:00 [entrez]
PHST- 2008/04/15 00:00 [pmc-release]
AID - 1755-8166-1-6 [pii]
AID - 10.1186/1755-8166-1-6 [doi]
PST - epublish
SO  - Mol Cytogenet. 2008 Apr 15;1:6. doi: 10.1186/1755-8166-1-6.