Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations

✍ Scribed by Ravnan, J. Britt; Chen, Emily; Golabi, Mahin; Lebo, Roger V.

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 677 KB
• Volume: 66
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19961218)66:3<250::aid-ajmg2>3.0.co;2-t

✦ Synopsis

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 archived slides from 14 patients oi*iginally studied only by high-resolution G banding detected 6 patients with a DGCR deletion, and only 2 of these 6 had a microscopically visible chromosome deletion. The 4 familial deletions found exhibited a wide range of clinical presentations within each family. Comparison of clinical characteristics of patients with and without the DGCR deletion determined findings predictive oF the deletion: abundant or unruly scalp h&r; narrow palpebral fissures; a laterally "hilt-up" nose; velopharyngeal inadequacy;