Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: A two-hit case with more severe clinical manifestations-Reference-Cited by-同舟云学术

Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: A two-hit case with more severe clinical manifestations

Published:2015-09 Issue:9 Volume:58 Page:497-501
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Brisset Sophie,Capri Yline,Briand-Suleau Audrey,Tosca Lucie,Gras Domitille,Fauret-Amsellem Anne-Laure,Pineau Dominique,Saada Julien,Ortonne Valérie,Verloes Alain,Goossens Michel,Tachdjian Gérard,Métay Corinne

Funder

French Ministry (DHOS)

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference17 articles.

1. Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy;Bassuk;Am. J. Med. Genet. A,2013

2. Large, rare chromosomal deletions associated with severe early-onset obesity;Bochukova;Nature,2010

3. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities;Brunetti-Pierri;Nat. Genet.,2008

4. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay;Girirajan;Nat. Genet.,2010

5. Phenotypic heterogeneity of genomic disorders and rare copy-number variants;Girirajan;N. Engl. J. Med.,2012

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1. Prenatal phenotypes and pregnancy outcomes of fetuses with 16p11.2 microdeletion/microduplication;BMC Pregnancy and Childbirth;2024-07-22

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3. Comprehensive genetic evaluation of Bulgarian children with syndromic craniosynostosis;Balkan Journal of Medical Genetics;2022-06-01

4. Molecular cytogenetic characterization of 16p11.2 microdeletions with diverse prenatal phenotypes: Four cases report and literature review;Taiwanese Journal of Obstetrics and Gynecology;2022-05

5. Prenatal Diagnosis of Recurrent Distal 1q21.1 Duplication in Three Fetuses With Ultrasound Anomalies;Frontiers in Genetics;2018-08-20