Please use this identifier to cite or link to this item: http://hdl.handle.net/1959.13/806499

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Title
A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology
Author/Creator
Talseth-Palmer, B. A.;  Bowden, N. A.;  Scott, R. J.;  Meldrum, C.;  Nicholl, J.;  Thompson, E.;  Friend, K.;  Liebelt, J.;  Bratkovic, D.;  Haan, E.;  Yu, S.
Institution
The University of Newcastle. Faculty of Health, School of Biomedical Sciences and Pharmacy
Description
Children with intellectual disability, dysmorphic features, malformations and/or growth abnormalities frequently display normal karyotypes. Recent studies have shown that genome-wide single nucleotide polymorphism (SNP) arrays can be effective in detecting abnormalities involving copy number variation (CNV), deletions, duplications and loss of heterozygosity (LOH) that routine cytogenetic tests fail to identify. Five patients with various degrees of intellectual disability and/or dysmorphic features and other malformations were whole-genome genotyped using the Human-1 Genotyping BeadChip – Exon-Centrix 100K SNP arrays (Illumina). All patients had undergone routine cytogenetic testing; four patients had normal karyotypes, while one patient had an apparently balanced complex translocation involving chromosomes 1q25, 1q32, 2q23, 7q22 and 16q24. We detected deletions on chromosome 1q44 and 13q31.1 in one patient, and LOH of the entire chromosome 2 in another patient, both with cytogenetically normal karyotypes. The patient with the complex translocation had a deletion on chromosome 7q22.2-22.3, which is in conjunction with one of the translocation breakpoints. Our findings provide further evidence of there being a critical region for the development of microcephaly and corpus callosum abnormalities in children with distal 1q deletions. We have also shown that apparently balanced complex translocations might not be balanced at the DNA level, and we report the fourth case of paternal uniparental disomy of chromosome 2. The results of this study suggest that it may be desirable to investigate idiopathic mental retardation using genome-wide SNP arrays, in conjunction with other cytogenetic and molecular techniques.
Relation
Cytogenetic and Genome Research Vol. 124, Issue 1, p. 94-101
Publisher Link
http://dx.doi.org/10.1159/000200093
Date
2009
Publisher
Karger
Keyword(s)
single nucleotide polymorphism;  SNP arrays;  cytogenetic;  chromosome 2
Resource Type
journal article
Identifier
http://hdl.handle.net/1959.13/806499
Identifier
ISSN:1424-8581
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Subject
"Cytogenetic and Genome Research"
 
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