Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome
β Scribed by Guillermo Lay-Son; Mirta Palomares; M. Luisa Guzman; Marcos Vasquez; Alonso Puga; Gabriela M. Repetto
- Book ID
- 118454524
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 140 KB
- Volume
- 76
- Category
- Article
- ISSN
- 0165-5876
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Vtalocardiofacial syndrome (VCFS) and the DiGeorge sequence (DGS) are caused by 22q11.2 deletions. Fluorescence in situ hybisidization (FISH) using the DiGeorge chromosome region (DGCR) probe (Oncor) was used to detect 31 deletions in 100 patients with possible VCFS. Retrospective FISH analysis of a
A well-known association exists between the presence of a chromosome 22q11 micro-deletion and conotruncal heart malformations. Recently, there has been an increased appreciation of the expanded clinical phenotype associated with this chromosome abnormality. We performed a medical record review to ev