15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.

doi:10.1016/j.ejmg.2015.01.002

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Article

15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.

European journal of medical genetics - 1 Mar 2015

Vanlerberghe Clémence, Petit Florence, Malan Valérie, Vincent-Delorme Catherine, Bouquillon Sonia, Boute Odile, Holder-Espinasse Muriel, Delobel Bruno, Duban Bénédicte, Vallee Louis, Cuisset Jean-Marie, Lemaitre Marie-Pierre, Vantyghem Marie-Christine, Pigeyre Marie, Lanco-Dosen Sandrine, Plessis Ghislaine, Gerard Marion, Decamp Matthieu, Mathieu Michèle, Morin Gilles, Jedraszak Guillaume, Bilan Frédéric, Gilbert-Dussardier Brigitte, Fauvert Delphine, Roume Joëlle, Cormier-Daire Valérie, Caumes Roseline, Puechberty Jacques, Genevieve David, Sarda Pierre, Pinson Lucie, Blanchet Patricia, Lemeur Nathalie, Sheth Frenny, Manouvrier-Hanu Sylvie, Andrieux Joris

Abstract excerpt

Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints (BP) for 15q rearrangements. 15q11.2 microdeletion between BP1 and BP2 has been previously associated with developmental delay and atypical psychological patterns. This region contains four highly-conserved and non-imprinted genes: NIPA1, NIPA2, CYFIP1, TUBGCP5. Our goal was to investigate the phenotypes associated with...

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Identifiers

PMID: 25596525
DOI: 10.1016/j.ejmg.2015.01.002

Genes

CYFIP1
NIPA1
NIPA2
TUBGCP5

Provenance

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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