| Developmental perspectives on copy number abnormalities of the 22q11.2 region. | |
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MedLine Citation:
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PMID: 20497193 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The 22q11.2 chromosomal landscape predisposes to genomic rearrangements that are associated with a variety of clinical phenotypes. The most well known of these include the 22q11.2 deletion and Cat-eye syndromes (CES), but more recently other copy number abnormalities have been recognised, especially with increased use of microarrays in the investigation of patients with congenital malformations or cognitive impairment. In addition, mutations in the TBX1 gene have been found in patients with phenotypes reminiscent of 22q11.2 syndromes. Recent advances in our understanding of 22q11.2 genes and their interactions provide insight into the mechanisms underlying the phenotypic variability of the 22q11.2 syndromes, and suggest a possible common developmental pathway perturbed by copy number abnormalities of this locus. |
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Authors:
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T Y Tan; C T Gordon; D J Amor; P G Farlie |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review Date: 2010-04-23 |
Journal Detail:
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Title: Clinical genetics Volume: 78 ISSN: 1399-0004 ISO Abbreviation: Clin. Genet. Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-08-10 Completed Date: 2011-02-02 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: Denmark |
Other Details:
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Languages: eng Pagination: 201-18 Citation Subset: IM |
Affiliation:
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Genetic Health Services Victoria, Royal Children's Hospital, Flemington Rd, Parkville, VIC 3052, Australia. tiong.tan@ghsv.org.au |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics*,
pathology Animals Chromosome Aberrations* Chromosomes, Human, Pair 22 / genetics* Craniofacial Abnormalities Gene Expression Regulation, Developmental Humans Mutation Syndrome T-Box Domain Proteins / genetics |
| Chemical | |
Reg. No./Substance:
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0/T-Box Domain Proteins; 0/TBX1 protein, human |
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