SYNDROMIC INTELLECTUAL DISABILITY BY MICRODUPLICATION 1P31.1: A CASE REPORT

Abstract

The present study reports the case of an 18-year-old female patient with mild intellectual disability, familial dysmorphia, and recurrent joint pain. The patient was referred for genetic evaluation at the Dr. Henrique Santillo State Center for Rehabilitation and Readaptation (CRER), in Goiânia, Goiás. Case details: The patient presented initial neuropsychomotor development within normal patterns, but over time developed motor and academic difficulties. Neuropsychological evaluations revealed a total IQ of 65, with impairment in cognitive and executive functions, as well as impairments in short- and long-term memory. Genetic analysis identified a duplication in the 1p31.1 region of chromosome 1, classified as Variant of Uncertain Significance (VUS). Final considerations: Multidisciplinary and genetic follow-up is the conduct for a better understanding of the clinical picture and for the development of personalized therapeutic strategies, aiming to improve the patient's quality of life.