16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations

Laïla Allach El Khattabi 1, 2, 3, 4, 5, 6, 7 Solveig Heide 1, 2, 3, 5, 4 Jean-Hubert Caberg 8 Joris Andrieux 9 Martine Doco Fenzy Caroline Vincent-Delorme Patrick Callier 10 Sandra Chantot-Bastaraud 11 Alexandra Afenjar 12 Odile Boute-Benejean 13 Marie Pierre Cordier Laurence Faivre 14 Christine Francannet 15 Marion Gérard 16 Alice Goldenberg 17 Alice Masurel-Paulet 10 Anne Mosca-Boidron Nathalie Marle 18 Anne Moncla 19 Nathalie Le Meur 17 Michèle Mathieu-Dramard 20 Ghislaine Plessis 21 Gaetan Lesca 22 Massimiliano Rossi 23 Patrick Edery 24 Andrée Delahaye-Duriez 25 Loïc de Pontual 26 Anne Claude Tabet 27 Aziza Lebbar 1, 2, 4, 3, 5 Lesley Suiro Christine Ioos 28 Abdelhafid Natiq 29 Siham Chafai Elalaoui 29 Chantal Missirian 19, 22 Aline Receveur 30 Caroline François-Fiquet Pascal Garnier Catherine Yardin 31 Cécile Laroche 32 Philippe Vago 33, 34 Damien Sanlaville 24 Jean Michel Dupont 1, 5, 2, 4, 3, 7, 6 Brigitte Benzacken 27 Eva Pipiras 25
Abstract : The 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.
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https://hal.archives-ouvertes.fr/hal-01926555
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Submitted on : Monday, November 19, 2018 - 12:36:37 PM
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Laïla Allach El Khattabi, Solveig Heide, Jean-Hubert Caberg, Joris Andrieux, Martine Doco Fenzy, et al.. 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations. Journal of Medical Genetics, BMJ Publishing Group, 2018, ⟨10.1136/jmedgenet-2018-105389⟩. ⟨hal-01926555⟩

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