Journal Article

Identification of familial and <i>de novo</i> microduplications of 22q11.21–q11.23 distal to the 22q11.21 microdeletion syndrome region

Justine Coppinger, Donna McDonald-McGinn, Elaine Zackai, Kate Shane, Joan F. Atkin, Alexander Asamoah, Robert Leland, David D. Weaver, Susan Lansky-Shafer, Karen Schmidt, Heidi Feldman, William Cohen, Judy Phalin, Berkley Powell, Blake C. Ballif, Aaron Theisen, Elizabeth Geiger, Chad Haldeman-Englert, Tamim H. Shaikh, Sulagna Saitta, Bassem A. Bejjani and Lisa G. Shaffer

in Human Molecular Genetics

Volume 18, issue 8, pages 1377-1383
Published in print April 2009 | ISSN: 0964-6906
Published online February 2009 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/ddp042
Identification of familial and de novo microduplications of 22q11.21–q11.23 distal to the 22q11.21 microdeletion syndrome region

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Deletions of the 22q11.2 region distal to the 22q11.21 microdeletion syndrome region have recently been described in individuals with mental retardation and congenital anomalies. Because these deletions are mediated by low-copy repeats (LCRs), located distal to the 22q11.21 DiGeorge/velocardiofacial microdeletion region, duplications are predicted to occur with a frequency equal to the deletion. However, few microduplications of this region have been reported. We report the identification of 18 individuals with microduplications of 22q11.21–q11.23. The duplication boundaries for all individuals are within LCRs distal to the DiGeorge/velocardiofacial microdeletion region. Clinical records for nine subjects reveal shared characteristics, but also several examples of contradicting clinical features (e.g. macrocephaly versus microcephaly and upslanting versus downslanting palpebral fissures). Of 12 cases for whom parental DNA samples were available for testing, one is de novo and 11 inherited the microduplication from a parent, three of whom reportedly have learning problems or developmental delay. The variable phenotypes and preponderance of familial cases obfuscate the clinical relevance of the molecular data and emphasize the need for careful parental assessments and clinical correlations.

Journal Article.  3418 words.  Illustrated.

Subjects: Genetics and Genomics

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