PMID- 21472348
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20121002
LR  - 20130222
IS  - 1791-3004 (Electronic)
IS  - 1791-2997 (Linking)
VI  - 3
IP  - 6
DP  - 2010 Nov-Dec
TI  - Characterization of 23 small supernumerary marker chromosomes detected at 
      pre-natal diagnosis: The value of fluorescence in situ hybridization.
PG  - 1015-22
LID - 10.3892/mmr.2010.358 [doi]
AB  - Small supernumerary marker chromosomes (sSMCs) cannot be identified or 
      characterized unambiguously by conventional cytogenetic banding techniques. Until 
      recently, the large variety of marker chromosomes, as well as the limitations in 
      their identification, have presented a diagnostic problem. In order to determine 
      the origin of sSMCs, we used a variety of fluorescence in situ hybridization 
      (FISH) methods, including centromere-specific multicolor FISH, acrocentric 
      specific multicolor FISH, subcentromere-specific multicolor FISH and multicolor 
      FISH with whole chromosome paint probes. Moreover, uniparental disomy testing was 
      in all cases attempted. From a total of 28,000 pre-natal samples from four 
      diagnostic genetics laboratories in Greece, 23 (0.082%) supernumerary marker 
      chromosomes were detected. The mean maternal age was 36.2 years (range 27-43) and 
      the mean gestational age at which amniocentesis was performed was 18.5 weeks 
      (range 16-23). Eighteen markers were de novo and 5 markers were inherited. 
      Molecular cytogenetic methods were applied to determine the chromosomal origin 
      and composition of the sSMC. In total, 17 markers were derived from acrocentric 
      chromosomes (14, 15, 21 and 22) and 6 markers were non-acrocentric, derived from 
      chromosomes 9, 16, 18, 20 and Y. Uniparental disomy was not detected in any of 
      the cases studied. With regard to pregnancy outcome, 13 pregnancies resulted in 
      normal healthy neonates, while 10 pregnancies were terminated due to ultrasound 
      abnormalities. A total of 23 marker chromosomes from 28,000 pre-natal samples 
      (0.082%) were identified. Molecular cytogenetic techniques provided valuable 
      information on the chromosomal origin and composition of all the sSMCs. 
      Especially in cases with normal ultrasound, the FISH results rendered genetic 
      counseling possible in a category of cases previously considered a diagnostic 
      problem. Abnormal outcome was observed in 10 cases (43,5%), 7 of which showed 
      abnormal ultrasound findings. New technologies, such as array-comparative genomic 
      hybridization, should be used in future genotype-phenotype correlation studies, 
      although the high mosaicism rate poses a problem.
FAU - Manolakos, E
AU  - Manolakos E
AD  - Laboratory of Genetics, Bioiatriki S.A., Kifissias Ave. 132 and Papada, Athens, 
      Greece.
FAU - Kefalas, K
AU  - Kefalas K
FAU - Neroutsou, R
AU  - Neroutsou R
FAU - Lagou, M
AU  - Lagou M
FAU - Kosyakova, N
AU  - Kosyakova N
FAU - Ewers, E
AU  - Ewers E
FAU - Ziegler, M
AU  - Ziegler M
FAU - Weise, A
AU  - Weise A
FAU - Tsoplou, P
AU  - Tsoplou P
FAU - Rapti, S M
AU  - Rapti SM
FAU - Papoulidis, I
AU  - Papoulidis I
FAU - Anastasakis, E
AU  - Anastasakis E
FAU - Garas, A
AU  - Garas A
FAU - Sotiriou, S
AU  - Sotiriou S
FAU - Eleftheriades, M
AU  - Eleftheriades M
FAU - Peitsidis, P
AU  - Peitsidis P
FAU - Malathrakis, D
AU  - Malathrakis D
FAU - Thomaidis, L
AU  - Thomaidis L
FAU - Kitsos, G
AU  - Kitsos G
FAU - Orru, S
AU  - Orru S
FAU - Liehr, T
AU  - Liehr T
FAU - Petersen, M B
AU  - Petersen MB
FAU - Kitsiou-Tzeli, S
AU  - Kitsiou-Tzeli S
LA  - eng
PT  - Journal Article
DEP - 20100910
PL  - Greece
TA  - Mol Med Rep
JT  - Molecular medicine reports
JID - 101475259
EDAT- 2011/04/08 06:00
MHDA- 2011/04/08 06:01
CRDT- 2011/04/08 06:00
PHST- 2010/06/07 00:00 [received]
PHST- 2010/08/11 00:00 [accepted]
PHST- 2011/04/08 06:00 [entrez]
PHST- 2011/04/08 06:00 [pubmed]
PHST- 2011/04/08 06:01 [medline]
AID - 10.3892/mmr.2010.358 [doi]
PST - ppublish
SO  - Mol Med Rep. 2010 Nov-Dec;3(6):1015-22. doi: 10.3892/mmr.2010.358. Epub 2010 Sep 
      10.