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Article

Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication.

American journal of medical genetics. Part A - 1 Jun 2013

Marini Carla, Cecconi Antonella, Contini Elisa, Pantaleo Marilena, Metitieri Tiziana, Guarducci Silvia, Giglio Sabrina, Guerrini Renzo, Genuardi Maurizio

Abstract excerpt

Interstitial chromosome 15q11-q13 duplications are associated with developmental delay, behavioral problems and additional manifestations, including epilepsy. In most affected individuals the duplicated chromosome is maternally derived, whereas paternal inheritance is more often associated with a normal phenotype. Seizures have not been described in patients with paternal dup 15q11-q13. We describe a family with...

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Share to Chromosomes, Human, Pair 15
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23633446
DOI: 10.1002/ajmg.a.35907

Genes

CYFIP1
GABRA5
GABRB3
GABRG3
MAGEL2
MKRN3
NDN
OCA2
SNRPN
TUBGCP5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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