ABSTRACT
The 15q11.2 BP1–BP2 region is found duplicated or deleted in people with cognitive, language, and behavioral impairment. Case presentation. We report on a family (the father and three male twin siblings) who presents with a duplication of the 15q11.2 BP1-BP2 region and a variable phenotype: whereas the father and the fraternal twin are normal carriers, the monozygotic twins exhibit severe language and cognitive delay and behavioral disturbances. The genes located within the duplicated region are involved in brain development and function, and some of them are related to language processing. Conclusions. The probands’ phenotype may result from changes in the expression level of some of these genes important for cognitive development.
Footnotes
Contact details for the other authors: Ma Salud Jiménez-Romero: m12jirom{at}uco.es, Montserrat Barcos-Martínez: geneticacor{at}gmail.com, Isabel Espejo-Portero: geneticacor{at}gmail.com
LIST OF ABBREVIATIONS
- ADD
- Attention Deficit Disorder
- ADHD
- Attention Deficit-Hyperactivity Disorder
- CA
- chronological age.
- CGH
- comparative genomic hybridization
- CNVs
- copy number variants
- DA
- developmental age
- FISH
- fluorescence in situ hybridization
- ICD
- International Statistical Classification of Diseases and Related Health Problems
- ITPA
- Illinois Test of Psycholinguistic Abilities
- M-CHAT
- Modified Checklist for Autism in Toddlers
- MLPA
- Multiplex Ligation-dependent Probe Amplification
- MRI
- magnetic resonance imaging
- OCD
- Obsessive-Compulsive Disorder
- ODD
- Oppositional Defiant disorder
- PCR
- polymerase chain reaction
- PECS
- Picture Exchange Communication System
- WAIS
- Wechsler Adult Intelligence Scale
- WISC
- Wechsler Intelligence Scale for Children