A 400 kb duplication, 2.4 Mb triplication and 130 kb duplication of 9q34.3 in a patient with severe mental retardation

Abstract The presence of a duplication as well as a triplication in one chromosome is a rare rearrangement and not easy to distinguish with routine chromosomal analysis. Recent developments in array technologies, however, not only allow screening of the whole genome at a higher resolution, but also...

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Bibliographic Details
Published in:European journal of medical genetics 2008-09, Vol.51 (5), p.479-487
Main Authors: Gijsbers, Antoinet C.J, Bijlsma, Emilia K, Weiss, Marjan M, Bakker, Egbert, Breuning, Martijn H, Hoffer, Mariëtte J.V, Ruivenkamp, Claudia A.L
Format: Article
Language:English
Subjects:
9q Duplication
9q Triplication
Adult and adolescent clinical studies
Biological and medical sciences
Classical genetics, quantitative genetics, hybrids
Fundamental and applied biological sciences. Psychology
General aspects. Genetic counseling
Genetics of eukaryotes. Biological and molecular evolution
Human
Intellectual deficiency
Medical Education
Medical genetics
Medical sciences
Mental retardation
Psychology. Psychoanalysis. Psychiatry
Psychopathology. Psychiatry
SNP array
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Summary:Abstract The presence of a duplication as well as a triplication in one chromosome is a rare rearrangement and not easy to distinguish with routine chromosomal analysis. Recent developments in array technologies, however, not only allow screening of the whole genome at a higher resolution, but also make it possible to characterize complex chromosomal rearrangements in more detail. Here we report a molecular cytogenetic analysis of a 16-year old female with severe mental retardation and an abnormality at the end of the long arm of chromosome 9. Subtelomeric multiplex ligation-dependent probe amplification (MLPA) analysis revealed that the extra material originated from the telomeric end of chromosome 9q. Fine mapping using a high-resolution single nucleotide polymorphism (SNP) array detected a duplication of ∼400 kb upstream of a ∼2.4 Mb triplication followed by a duplication of ∼130 kb of chromosome 9q34.3. This study underscores the value of combining conventional karyotyping with novel array technologies to unravel complex chromosomal alterations in order to study their phenotypic impact.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2008.04.003