Patient with a 22q11.2 deletion with no
✍
McQuade, Leon; Christodoulou, John; Budarf, Marcia; Sachdev, Rani; Wilson, Mered
📂
Article
📅
1999
🏛
John Wiley and Sons
🌐
English
⚖ 39 KB
👁 3 views
The apparent lack of genotype/phenotype correlation in patients with the DiGeorge anomaly and velocardiofacial syndrome (DGA/VCFS; the "22q11 deletion syndrome") indicates a complex genetic condition. Most cases, whatever the phenotype, have a 1.5-3 ## Mb chromosomal deletion that includes the mini