15q13.3 microduplication syndrome

Disease Overview

15q13.3 microduplication syndrome is a rare chromosomal disorder. Our genetic information is organized in structures called chromosomes. People with 15q13.3 microduplication syndrome have an extra piece of genetic information on the long arm (q arm) of chromosome 15.  Some people with this duplication do not have any medical or behavioral problems. Other people may have developmental delay, intellectual disability, communication difficulties, behavioral and psychiatric problems (such as autistic features, emotional instability, attention-deficit hyperactivity disorder (ADHD), schizophrenia), feeding problems, difficulty sleeping (insomnia), low muscular tone (hypotonia) and seizures.[7036] Some people with this syndrome also have cleft palate.[14574] The duplication contains the CHRNA7 gene, which is believed to cause the the behavioral abnormalities and the cleft palate.[14660]

When the duplication is inherited from a parent, it is inherited in an autosomal dominant manner. A chromosome abnormality may be suspected if a child has feeding problems, developmental delay, intellectual disability, or behavioral problems. Genetic testing using chromosomal microarray (CMA) may confirm the diagnosis. Treatment options may include physical, occupational, and speech therapies, as well as medications to treat the specific problems seen in each person.[7036]

Synonyms

• 15q13.3 microduplication
• Chromosome 15q13.3 duplication syndrome
• Chromosome 15q13.3 microduplication syndrome
• Microduplication 15q13.3 syndrome