Variable Penetrance of the 15q11.2 BP1-BP2 Microduplication in a Family with Cognitive and Language Impairment

Antonio Benítez-Burraco,Montserrat Barcos-Martínez,Isabel Espejo-Portero,Salud Jiménez-Romero

Variable Penetrance of the 15q11.2 BP1-BP2 Microduplication in a Family with Cognitive and Language Impairment

2017

Antonio Benítez-Burraco
Montserrat Barcos-Martínez
Isabel Espejo-Portero
Salud Jiménez-Romero

The 15q11.2 BP1-BP2 region is found duplicated or deleted in people with cognitive, language, and behavioral impairment. We report on a family (a father and 3 male twin siblings) that presents with a

Keywords:

Genetics
Medicine
Copy-number variation
Cognitive delay
Penetrance
Cognition
Phenotype
fraternal twin
brain development
language impairment
Biology
Cognitive development
Gene duplication

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