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Article

A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction.

American journal of medical genetics. Part A - 1 Jun 2015

Landais Emilie, Leroy Camille, Kleinfinger Pascale, Brunet Stéphanie, Koubi Valérie, Pietrement Christine, Poli-Mérol Marie-Laurence, Fiquet Caroline, Souchon Pierre-François, Beri Mylène, Jonveaux Philippe, Garnotel Roselyne, Gaillard Dominique, Doco-Fenzy Martine

Abstract excerpt

Familial transmission of chromosome 6 duplications is rare. We report on the first observation of a maternally-inherited pure segmental 6q duplication split into two segments, 6q15q16.3 and 6q16.3q21, and associated with obesity. Obesity has previously been correlated to chromosome 6 q-arm deletion but has not yet been assessed in duplications. The aim of this study was to characterize the structure of these...

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Share to Chromosome Banding
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25900228
DOI: 10.1002/ajmg.a.36995

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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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