| 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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MedLine Citation:
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PMID: 19372674 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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B A Talseth-Palmer; N A Bowden; C Meldrum; J Nicholl; E Thompson; K Friend; J Liebelt; D Bratkovic; E Haan; S Yu; R J Scott |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2009-04-15 |
Journal Detail:
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Title: Cytogenetic and genome research Volume: 124 ISSN: 1424-859X ISO Abbreviation: Cytogenet. Genome Res. Publication Date: 2009 |
Date Detail:
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Created Date: 2009-04-17 Completed Date: 2009-05-19 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101142708 Medline TA: Cytogenet Genome Res Country: Switzerland |
Other Details:
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Languages: eng Pagination: 94-101 Citation Subset: IM |
Copyright Information:
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Copyright 2009 S. Karger AG, Basel. |
Affiliation:
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Faculty of Health, School of Biomedical Sciences, University of Newcastle and the Hunter Medical Research Institute, Newcastle, NSW, Australia. Bente.Talseth-Palmer@newcastle.edu.au |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Alleles Child Chromosomes, Human, Pair 1* Chromosomes, Human, Pair 2* Fathers Female Gene Dosage Gene Frequency Humans Infant Loss of Heterozygosity Male Oligonucleotide Array Sequence Analysis Phenotype Polymorphism, Single Nucleotide Sequence Deletion* Translocation, Genetic* Uniparental Disomy* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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