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Article

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

European journal of medical genetics - 1 Sept 2015

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

Abstract excerpt

We report paternally inherited duplication of 1q12q21.2 of 5.8 Mb associated with maternally inherited deletion of 16p11.2 of 545 Kb, this latter first identified in a fetus exhibiting an absent nasal bone detected during pregnancy. During the neonatal period, the young boy presented developmental delay, epilepsy, congenital anomalies and overweight. The clinical features of the proband with two rearrangements...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26162704
DOI: 10.1016/j.ejmg.2015.07.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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