Article
Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events.
Journal of medical genetics - 1 Nov 2012
Bi Weimin, Probst Frank J, Wiszniewska Joanna, Plunkett Katie, Roney Erin K, Carter Brian S, Williams Misti D, Stankiewicz Pawel, Patel Ankita, Stevens Cathy A, Lupski James R, Cheung Sau Wai
Abstract excerpt
BACKGROUND: Genomic rearrangements usually involve one of the two chromosome homologues. Homozygous microdeletion/duplication is very rare. The chromosome 22q11.2 region is prone to recurrent rearrangements due to the presence of low-copy repeats. A common 3 Mb microdeletion causes the well-characterised DiGeorge syndrome (DGS). The reciprocal duplication is associated with an extremely variable phenotype,...
Topics
- Adult
- Chromosome Deletion
- Chromosome Duplication
- Chromosomes, Human, Pair 10
- Chromosomes, Human, Pair 22
- DNA Copy Number Variations
- DiGeorge Syndrome
- Female
- Humans