Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation

Abstract 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 c...

Full description

Saved in:
Bibliographic Details
Published in:European journal of medical genetics 2011-07, Vol.54 (4), p.e409-e412
Main Authors: Gijsbers, Antoinet C.J, Dauwerse, Johannes G, Bosch, Cathy A.J, Boon, Elles M.J, van den Ende, Wilco, Kant, Sarina G, Hansson, Kerstin M.B, Breuning, Martijn H, Bakker, Egbert, Ruivenkamp, Claudia A.L
Format: Article
Language:English
Subjects:
Adult
Alleles
Chromosome Aberrations
Female
Humans
Intellectual Disability - genetics
Karyotyping
Male
Medical Education
Middle Aged
Models, Genetic
Mosaicism
Pedigree
Phenotype
Polymorphism, Single Nucleotide - genetics
Translocation, Genetic
Unbalanced autosomal reciprocal translocation
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Abstract 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.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2011.05.002