Publications by authors named "Marie Catty"
Eur J Hum Genet
June 2016
Article Synopsis
- The study investigated 22q11.2 deletion syndrome (22q11.2DS), a common microdeletion syndrome, focusing on its incidence and symptoms in patients diagnosed after birth across multiple French cytogenetic centers from 1995 to 2013.
- A total of 749 patients were analyzed, with major reasons for referral including congenital heart defects (48.6%), facial abnormalities (49.7%), and developmental delays (40.7%).
- Most cases were diagnosed using FISH technology (96.1%), with over 108 new cases detected annually in France, highlighting congenital heart defects, especially septal defects, as the primary postnatal malformation.
