16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations
- Allach El Khattabi, Laïla
- Heide, Solveig
- Caberg, Jean-Hubert
- Andrieux, Joris
- Doco Fenzy, Martine
- Vincent-Delorme, Caroline
- Callier, Patrick
- Chantot-Bastaraud, Sandra
- Afenjar, Alexandra
- Boute-Benejean, Odile
- Cordier, Marie Pierre
- Faivre, Laurence
- Francannet, Christine
- Gérard, Marion
- Goldenberg, Alice
- Masurel-Paulet, Alice
- Mosca-Boidron, Anne
- Marle, Nathalie
- Moncla, Anne
- Le Meur, Nathalie
- Mathieu-Dramard, Michèle
- Plessis, Ghislaine
- Lesca, Gaetan
- Rossi, Massimiliano
- Edery, Patrick
- Delahaye-Duriez, Andrée
- De Pontual, Loïc
- Tabet, Anne Claude
- Lebbar, Aziza
- Suiro, Lesley
- Ioos, Christine
- Natiq, Abdelhafid
- Chafai Elalaoui, Siham
- Missirian, Chantal
- Receveur, Aline
- François-Fiquet, Caroline
- Garnier, Pascal
- Yardin, Catherine
- Laroche, Cécile
- Vago, Philippe
- Sanlaville, Damien
- Dupont, Jean Michel
- Benzacken, Brigitte
- Pipiras, Eva
DOIAbstract
International audienceThe clinical significance of 16p13.11 duplications remains controversial while frequently detected in patients with developmental delay (DD), intellectual deficiency (ID) or autism spectrum disorder (ASD). Previously reported patients were not or poorly characterised. The absence of consensual recommendations leads to interpretation discrepancy and makes genetic counselling challenging. This study aims to decipher the genotype-phenotype correlations to improve genetic counselling and patients' medical care