Work

Autism spectrum disorder, Klinefelter syndrome, and chromosome 3p21.31 duplication: a case report.

Year: 2007

Type: article

Abstract: Autism spectrum disorders are heterogeneous in nature with idiopathic and genetic origins. We present a 7-year-old boy with a long history of multiple behavioral concerns, poor school performance, repetitive/compulsive tendencies, poor social skills, and language delays. A multidisciplinary evaluation concluded that the patient met full criteria for autism. A genetic evaluation demonstrated Klinefelter syndrome 47, XXY karyotype with concurrent duplication of 3p21.31 by microarray analysis. Maternal genetic analysis demonstrated the same 3p21.31 duplication. The potential implication with regard to autism spectrum disorders has not been previously discussed in the literature.

Source: PubMed

Authors: Scott W Stuart, Casey H King, G Shashidar Pai

Institution: Medical University of South Carolina

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W1531992304

FWCI: 0.141

Cites: 22

Cited by: 6

Related to: 10