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

Laïla Allach El Khattabi; Solveig Heide; Jean-Hubert Caberg; Joris Andrieux; Martine Doco Fenzy; Caroline Vincent-Delorme; Patrick Callier; Sandra Chantot-Bastaraud; Alexandra Afenjar; Odile Boute-Benejean; Marie Pierre Cordier; Laurence Faivre; Christine Francannet; Marion Gerard; Alice Goldenberg; Alice Masurel-Paulet; Anne-Laure Mosca-Boidron; Nathalie Marle; Anne Moncla; Nathalie Le Meur; Michèle Mathieu-Dramard; Ghislaine Plessis; Gaetan Lesca; Massimiliano Rossi; Patrick Edery; Andrée Delahaye-Duriez; Loïc De Pontual; Anne Claude Tabet; Aziza Lebbar; Lesley Suiro; Christine Ioos; Abdelhafid Natiq; Siham Chafai Elalaoui; Chantal Missirian; Aline Receveur; Caroline François-Fiquet; Pascal Garnier; Catherine Yardin; Cécile Laroche; Philippe Vago; Damien Sanlaville; Jean Michel Dupont; Brigitte Benzacken; Eva Pipiras

doi:10.1136/jmedgenet-2018-105389

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

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Laïla Allach El Khattabi Cytogenetics department, Cochin Hospital, Assistance Publique des Hôpitaux de Paris; Sorbonne Paris Cité, Paris Descartes University, Medical school, Paris, France Department of Development, Reproduction and Cancer, Cochin Research Institute, INSERM U1016, CNRS UMR8104, Paris, France Nuclear Lymphocyte Biology, NIAMS, National Institutes of Health, Bethesda, Maryland, United States PubMed articles Google scholar articles
Solveig Heide Cytogenetics department, Cochin Hospital, Assistance Publique des Hôpitaux de Paris; Sorbonne Paris Cité, Paris Descartes University, Medical school, Paris, France PubMed articles Google scholar articles
Jean-Hubert Caberg Genetics department, CHU de Liège - UniLab Lg, Liège, Belgium PubMed articles Google scholar articles
Joris Andrieux Genetics department, Jeanne de Flandre Hospital, CHRU de Lille, Lille, France PubMed articles Google scholar articles
Martine Doco Fenzy Genetics department, CHU Reims, Medical school IFR53, EA3801, Reims, France PubMed articles Google scholar articles
Caroline Vincent-Delorme Genetics department, Guy Fontaine Medical center, CLAD Nord de France, Jeanne de Flandre Hospital, CHRU Lille, CH Arras, Arras, France PubMed articles Google scholar articles
Patrick Callier Genetics department, CHU de Dijon, Dijon, France PubMed articles Google scholar articles
Sandra Chantot-Bastaraud Genetics and Embryology department, Armand-Trousseau Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France PubMed articles Google scholar articles
Alexandra Afenjar Neuropediatrics department, Armand-Trousseau Hospital, Assistance Publique des Hôpitaux de Paris; Reference Center for cerebellar malformations, Paris, France PubMed articles Google scholar articles
Odile Boute-Benejean Genetics department, Guy Fontaine Medical Center, CLAD Nord de France, Jeanne de Flandre Hospital, CHRU Lille, Lille, France PubMed articles Google scholar articles
Marie Pierre Cordier Genetics department, GH Est, Hospices Civils de Lyon, Lyon, France PubMed articles Google scholar articles
Laurence Faivre Genetics department, CHU de Dijon, Dijon, France PubMed articles Google scholar articles
Christine Francannet Medical Genetics department, Hôtel Dieu Hospital, Clermont-Ferrand, France PubMed articles Google scholar articles
Marion Gerard Genetics department, CHU Côte de Nacre, Caen, France PubMed articles Google scholar articles
Alice Goldenberg Medical Genetics department, CHU Ch. Nicolle, Rouen, France PubMed articles Google scholar articles
Alice Masurel-Paulet Genetics department, CHU de Dijon, Dijon, France PubMed articles Google scholar articles
Anne-Laure Mosca-Boidron Genetics department, CHU de Dijon, Dijon, France PubMed articles Google scholar articles
Nathalie Marle Genetics department, CHU de Dijon, Dijon, France PubMed articles Google scholar articles
Anne Moncla Medical Genetics department, CHU Timone enfants, Assistance Publique des Hôpitaux de Marseille, Marseille, France PubMed articles Google scholar articles
Nathalie Le Meur Department of Genetics, Reproductive biology and Histology, CHU de Rouen, Rouen, France PubMed articles Google scholar articles
Michèle Mathieu-Dramard Clinical Genetics department, CHU d’Amiens, Amiens, France PubMed articles Google scholar articles
Ghislaine Plessis Genetics department, CHU Côte de Nacre, Caen, France PubMed articles Google scholar articles
Gaetan Lesca Genetics department, GH Est, Hospices Civils de Lyon, Lyon, France GENDEV Team, CRNL, CNRS UMR 5292, INSERM U1028; Claude Bernard Lyon I University, Lyon, France PubMed articles Google scholar articles
Massimiliano Rossi Genetics department, GH Est, Hospices Civils de Lyon, Lyon, France GENDEV Team, CRNL, CNRS UMR 5292, INSERM U1028; Claude Bernard Lyon I University, Lyon, France PubMed articles Google scholar articles
Patrick Edery Genetics department, GH Est, Hospices Civils de Lyon, Lyon, France GENDEV Team, CRNL, CNRS UMR 5292, INSERM U1028; Claude Bernard Lyon I University, Lyon, France PubMed articles Google scholar articles
Andrée Delahaye-Duriez Department of Histology Embryology and Cytogenetics, Jean Verdier Hospital; Paris 13 University, Sorbonne Paris Cité, UFR SMBH Bobigny; PROTECT, INSERM, Paris Diderot University, Bondy, France Division of Brain Sciences, Faculty of Medicine, Imperial College, London, UK PubMed articles Google scholar articles
Loïc De Pontual Pediatrics department, Jean Verdier Hospital, Assistance Publique des Hôpitaux de Paris, Paris 13 University, Bondy, France PubMed articles Google scholar articles
Anne Claude Tabet Genetics department, CHU Robert Debré, Assistance Publique des Hôpitaux de Paris, Paris, France PubMed articles Google scholar articles
Aziza Lebbar Cytogenetics department, Cochin Hospital, Assistance Publique des Hôpitaux de Paris; Sorbonne Paris Cité, Paris Descartes University, Medical school, Paris, France PubMed articles Google scholar articles
Lesley Suiro Neuropediatrics department, Hôpital Raymond Poincaré, Assistance Publique des Hôpitaux de Paris, Garches, France PubMed articles Google scholar articles
Christine Ioos Neuropediatrics department, Hôpital Raymond Poincaré, Assistance Publique des Hôpitaux de Paris, Garches, France PubMed articles Google scholar articles
Abdelhafid Natiq Medical Genetics department, Institut National d’Hygiène, Rabat, Morocco PubMed articles Google scholar articles
Siham Chafai Elalaoui Medical Genetics department, Institut National d’Hygiène, Rabat, Morocco PubMed articles Google scholar articles
Chantal Missirian Medical Genetics department, CHU Timone enfants, Assistance Publique des Hôpitaux de Marseille, Marseille, France PubMed articles Google scholar articles
Aline Receveur Cytogenetics and Reproductive Biology department, CHU d’Amiens, Amiens, France PubMed articles Google scholar articles
Caroline François-Fiquet Plastic reconstructive and aesthetic surgery, Maison Blanche Hospital, Robert Debré Hospital, Reims, France PubMed articles Google scholar articles
Pascal Garnier Pediatrics, CAMSP, Troyes, France PubMed articles Google scholar articles
Catherine Yardin Department of Histology, Cytology, Cytogenetics, Cell Biology and Reproduction, Limoges University Hospital, Limoges, France PubMed articles Google scholar articles
Cécile Laroche Pediatrics department, Limoges University Hospital, Limoges, France PubMed articles Google scholar articles
Philippe Vago Cytogenetics department, CHU Clermont-Ferrand, ERTICA, Auvergne University, Clermont-Ferrand, France PubMed articles Google scholar articles
Damien Sanlaville Genetics department, GH Est, Hospices Civils de Lyon, Lyon, France GENDEV Team, CRNL, CNRS UMR 5292, INSERM U1028; Claude Bernard Lyon I University, Lyon, France PubMed articles Google scholar articles
Jean Michel Dupont Cytogenetics department, Cochin Hospital, Assistance Publique des Hôpitaux de Paris; Sorbonne Paris Cité, Paris Descartes University, Medical school, Paris, France Department of Development, Reproduction and Cancer, Cochin Research Institute, INSERM U1016, CNRS UMR8104, Paris, France PubMed articles Google scholar articles
Brigitte Benzacken Department of Histology Embryology and Cytogenetics, Jean Verdier Hospital; Paris 13 University, Sorbonne Paris Cité, UFR SMBH Bobigny; PROTECT, INSERM, Paris Diderot University, Bondy, France PubMed articles Google scholar articles
Eva Pipiras Department of Histology Embryology and Cytogenetics, Jean Verdier Hospital; Paris 13 University, Sorbonne Paris Cité, UFR SMBH Bobigny; PROTECT, INSERM, Paris Diderot University, Bondy, France PubMed articles Google scholar articles

Correspondence to Dr Laïla Allach El Khattabi, Cytogenetics Department, Cochin Hospital, Paris 75014, France; laila.el-khattabi{at}inserm.fr

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Citation

Allach El Khattabi L, Heide S, Caberg J, et al

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

Journal of Medical Genetics 2020;57:301-307.

Publication history

Received March 26, 2018
Revised August 30, 2018
Accepted September 10, 2018
First published October 4, 2018.

Online issue publication

April 23, 2020

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