Article
A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features.
European journal of medical genetics - 1 Mar 2013
Boudry-Labis Elise, Demeer Bénédicte, Le Caignec Cédric, Isidor Bertrand, Mathieu-Dramard Michèle, Plessis Ghislaine, George Alice M, Taylor Juliet, Aftimos Salim, Wiemer-Kruel Adelheid, Kohlhase Jürgen, Annerén Göran, Firth Helen, Simonic Ingrid, Vermeesch Joris, Thuresson Ann-Charlotte, Copin Henri, Love Donald R, Andrieux Joris
Abstract excerpt
The increased use of array-CGH and SNP-arrays for genetic diagnosis has led to the identification of new microdeletion/microduplication syndromes and enabled genotype-phenotype correlations to be made. In this study, nine patients with 9q21 deletions were investigated and compared with four previously Decipher reported patients. Genotype-phenotype comparisons of 13 patients revealed several common major...
Topics
- Abnormalities, Multiple
- Adolescent
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 9
- Developmental Disabilities
- Electron Probe Microanalysis