Document Detail

Clinical variability of the 22q11.2 duplication syndrome.
MedLine Citation:
PMID:  18707033     Owner:  NLM     Status:  MEDLINE    
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.
Christian Wentzel; Maria Fernström; Ylva Ohrner; Göran Annerén; Ann-Charlotte Thuresson
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2008-07-29
Journal Detail:
Title:  European journal of medical genetics     Volume:  51     ISSN:  1878-0849     ISO Abbreviation:  Eur J Med Genet     Publication Date:    2008 Nov-Dec
Date Detail:
Created Date:  2008-12-01     Completed Date:  2009-03-10     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101247089     Medline TA:  Eur J Med Genet     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  501-10     Citation Subset:  IM    
Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden.
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MeSH Terms
Child, Preschool
Chromosome Aberrations*
Chromosomes, Human, Pair 22*
Congenital Abnormalities / genetics
Learning Disorders / genetics
Nucleic Acid Hybridization

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