PMID- 21664500
OWN - NLM
STAT- MEDLINE
DCOM- 20111031
LR  - 20111117
IS  - 1878-0849 (Electronic)
IS  - 1769-7212 (Linking)
VI  - 54
IP  - 4
DP  - 2011 Jul-Aug
TI  - Three new cases with a mosaicism involving a normal cell line and a cryptic 
      unbalanced autosomal reciprocal translocation.
PG  - e409-12
LID - 10.1016/j.ejmg.2011.05.002 [doi]
AB  - Mosaicism involving a normal cell line and an unbalanced autosomal translocation 
      are rare. In this study we present three new cases with such a mosaicism, which 
      were detected by Single Nucleotide Polymorphism (SNP) array analysis in our 
      routine diagnostic setting. These cases were further characterized using 
      Fluorescence in situ Hybridisation (FISH) analysis and conventional karyotyping. 
      The first case is a mentally retarded male who carries an unbalanced 
      translocation in 87% of his cells. The phenotypically normal mother carries the 
      balanced form of the translocation in all her cells. The second case is a 
      phenotypically normal female who has an unbalanced translocation in 52% of her 
      cells. The inheritance could not be determined. The third case is a female 
      referred for Rubinstein-Taybi syndrome who carries an unbalanced translocation in 
      60% of her cells. Both parents of this case showed a normal karyotype. The 
      mechanisms that might be responsible for these mosaic karyotypes are discussed. 
      Furthermore, we demonstrate that high-resolution whole-genome SNP array is a 
      powerful tool to reveal cryptic unbalanced translocations and mosaicisms, 
      including the more rare cases.
CI  - Copyright (c) 2011 Elsevier Masson SAS. All rights reserved.
FAU - Gijsbers, Antoinet C J
AU  - Gijsbers AC
AD  - Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), 
      Leiden, The Netherlands. a.c.j.gijsbers@lumc.nl
FAU - Dauwerse, Johannes G
AU  - Dauwerse JG
FAU - Bosch, Cathy A J
AU  - Bosch CA
FAU - Boon, Elles M J
AU  - Boon EM
FAU - van den Ende, Wilco
AU  - van den Ende W
FAU - Kant, Sarina G
AU  - Kant SG
FAU - Hansson, Kerstin M B
AU  - Hansson KM
FAU - Breuning, Martijn H
AU  - Breuning MH
FAU - Bakker, Egbert
AU  - Bakker E
FAU - Ruivenkamp, Claudia A L
AU  - Ruivenkamp CA
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20110523
PL  - Netherlands
TA  - Eur J Med Genet
JT  - European journal of medical genetics
JID - 101247089
SB  - IM
MH  - Adult
MH  - Alleles
MH  - Chromosome Aberrations
MH  - Female
MH  - Humans
MH  - Intellectual Disability/genetics
MH  - Karyotyping
MH  - Male
MH  - Middle Aged
MH  - Models, Genetic
MH  - *Mosaicism
MH  - Pedigree
MH  - Phenotype
MH  - Polymorphism, Single Nucleotide/genetics
MH  - *Translocation, Genetic
EDAT- 2011/06/15 06:00
MHDA- 2011/11/01 06:00
CRDT- 2011/06/14 06:00
PHST- 2011/02/16 00:00 [received]
PHST- 2011/05/04 00:00 [accepted]
PHST- 2011/06/14 06:00 [entrez]
PHST- 2011/06/15 06:00 [pubmed]
PHST- 2011/11/01 06:00 [medline]
AID - S1769-7212(11)00064-4 [pii]
AID - 10.1016/j.ejmg.2011.05.002 [doi]
PST - ppublish
SO  - Eur J Med Genet. 2011 Jul-Aug;54(4):e409-12. doi: 10.1016/j.ejmg.2011.05.002. 
      Epub 2011 May 23.