Clinical and neuropsychological characterization of Jacobsen syndrome (del11q).

ABSTRACT:

Background

Jacobsen Syndrome (JS), also known as 11q Deletion Syndrome (del11q), is a rare genetic disorder affecting approximately 1 in 100,000 births that presents with varied clinical manifestations and severities including intellectual disability, psychomotor delays, and distinctive physical traits. This study offers a detailed analysis of the clinical and cognitive profiles of individuals with JS and examines how these characteristics are related to each other and to genetic variables.

Methods

Twenty-nine participants with JS (20 female, mean age 12.48 years, SD = 9.13) underwent standardized assessments assessing cognitive functioning, adaptive behavior, autistic traits, and general psychopathology. A CGH array was used to assess genetic deletions. We employed descript

SUBMITTER: Garriz-Luis A 

PROVIDER: S-EPMC12831456 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature