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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...

Topics

Adolescent
Adult
Aged
Chromosome Aberrations
Chromosomes, Human, Pair 15
Comparative Genomic Hybridization
Developmental Disabilities
Female
Genomic Imprinting
Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Intellectual Disability

Karyotyping

Learning Disabilities

Male

Middle Aged

Phenotype

Seizures

Source

Identifiers

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

Genes

CYFIP1
GABRA5
GABRB3
GABRG3
MAGEL2
MKRN3
NDN
OCA2
SNRPN
TUBGCP5

Provenance

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