| Clinical variability of the 22q11.2 duplication syndrome. | |
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MedLine Citation:
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PMID: 18707033 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from normal to learning disability and congenital defects. Both patients with a de novo 22q11.2 duplication and patients in whom the duplication has been inherited from a phenotypically normal parent have been reported. In this study we present two familial cases with a 3Mb 22q11.2 duplication detected by array-CGH. We also review the findings in 36 reported cases with the aim of delineating the phenotype of the 22q11.2 duplication syndrome. In a majority of the reported cases where parents have been tested, the duplication seems to have been inherited from a normal parent with minor abnormalities. With this in mind we recommend that family members of patients with a 22q11.2 duplication to be tested for this genetic defect. |
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Authors:
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Christian Wentzel; Maria Fernström; Ylva Ohrner; Göran Annerén; Ann-Charlotte Thuresson |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2008-07-29 |
Journal Detail:
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Title: European journal of medical genetics Volume: 51 ISSN: 1878-0849 ISO Abbreviation: Eur J Med Genet Publication Date: 2008 Nov-Dec |
Date Detail:
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Created Date: 2008-12-01 Completed Date: 2009-03-10 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: Netherlands |
Other Details:
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Languages: eng Pagination: 501-10 Citation Subset: IM |
Affiliation:
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Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child, Preschool Chromosome Aberrations* Chromosomes, Human, Pair 22* Congenital Abnormalities / genetics Female Humans Learning Disorders / genetics Male Nucleic Acid Hybridization Phenotype Syndrome |
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