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

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dc.contributor.authorTalseth-Palmer, B.
dc.contributor.authorBowden, N.
dc.contributor.authorMeldrum, C.
dc.contributor.authorNicholl, J.
dc.contributor.authorThompson, E.
dc.contributor.authorFriend, K.
dc.contributor.authorLiebelt, J.
dc.contributor.authorBratkovic, D.
dc.contributor.authorHaan, E.
dc.contributor.authorYu, S.
dc.contributor.authorScott, R.
dc.date.issued2009
dc.description.abstractChildren 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.
dc.description.statementofresponsibilityB.A. Talseth-Palmer, N.A. Bowden, C. Meldrum, J. Nicholl, E. Thompson, K. Friend, J. Liebelt, D. Bratkovic, E. Haan, S. Yu and R.J. Scott
dc.identifier.citationCytogenetic and Genome Research, 2009; 124(1):94-101
dc.identifier.doi10.1159/000200093
dc.identifier.issn1424-8581
dc.identifier.issn1424-859X
dc.identifier.orcidHaan, E. [0000-0002-7310-5124]
dc.identifier.urihttp://hdl.handle.net/2440/58130
dc.language.isoen
dc.publisherKarger
dc.rightsCopyright © 2009 S. Karger AG, Basel
dc.source.urihttps://doi.org/10.1159/000200093
dc.subjectChromosomes, Human, Pair 1
dc.subjectChromosomes, Human, Pair 2
dc.subjectHumans
dc.subjectUniparental Disomy
dc.subjectTranslocation, Genetic
dc.subjectOligonucleotide Array Sequence Analysis
dc.subjectFathers
dc.subjectSequence Deletion
dc.subjectGene Frequency
dc.subjectGene Dosage
dc.subjectPhenotype
dc.subjectLoss of Heterozygosity
dc.subjectPolymorphism, Single Nucleotide
dc.subjectAlleles
dc.subjectAdolescent
dc.subjectChild
dc.subjectInfant
dc.subjectFemale
dc.subjectMale
dc.titleA 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
dc.typeJournal article
pubs.publication-statusPublished

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