Case reports of two siblings with autism spectrum disorder and 15q13.3 deletions.

ABSTRACT:

Background

Copy number variations (CNVs) have been implicated in psychiatric and neurodevelopmental disorders. Especially, 15q13.3 deletions are strongly associated with autism spectrum disorder (ASD), intellectual disability (ID), schizophrenia (SCZ), attention deficithyperactivity disorder (ADHD), and mood disorder.

Case presentation

We present two siblings with ASD. They had a father with bipolar disorder (BD). Patient 1 is a 21-year-old female with ASD and mild ID, who had language delay and repetitive behavior in childhood, social difficulties, and refused to go to school because of bullying. She was hospitalized in a psychiatric hospital several times. Patient 2 is a 19-year-old male with ASD and ADHD. He did not have developmental delay, but had social difficulties an

SUBMITTER: Furukawa S 

PROVIDER: S-EPMC10496043 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature