P384: Xq12 chromosome duplication: A family case report

Genetics in Medicine Open 2026 Open access

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Authors: Temple Trapp, Maria Ethel Aguirre Flores, Amanda Toledo Hernández
DOI: 10.1016/j.gimo.2026.103878
Cited by: 0

Abstract

The patient is followed by all recommended specialists, according to the available information regarding Xq duplication syndrome. His annual surveillance also includes growth monitoring, developmental assessment, hearing evaluation, vision exam, and clinical assessment for seizures.

Fields of Study & Subjects

Genomic variations and chromosomal abnormalities Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Genetics and Neurodevelopmental Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103878–103878
Publication date
1 January 2026
Language
EN