Interstitial duplication syndrome in the chromosomic region 15q11q13: a case report

Introduction: The chromosomal region 15q11-13 contains a group of genes essential for normal neurodevelopment and alterations in this result different syndromes. Among the most frequent alterations, there are deletions duplications. Duplications chromosome 15q11q13 occur as supernumerary 15, may interstitial main clinical manifestations intellectual impairment, problems with vision, hearing, teething bones joints. Currently, few cases reported literature about genetic condition, which justifies relevance study. Objective: To report case duplication describe manifestations. Methodology: This is qualitative nature. Case report: J.V.A.S., male, eight years old, attended at Associação de Pais e Amigos dos Excepcionais (APAE), Anápolis, Goiás, Brazil, 2017, diagnosed neuropsychomotor developmental delay (ADNPM) macrocrania. No complications during childbirth. patient had head support six months, sat up nine walked talked one year ten months. He attends school has good interaction, but learning difficulties. In 2018, CGH – ARRAY (aCGH) revealed presence 15q11.2q13.1 approximately 6.1Mb classified pathogenic. Results discussion: Due to rarity syndrome, we did not find satisfactory number articles that specifically addressed duplication. Conclusion: It necessary carry out more studies, long term through samples, order elucidate aspects involved pathology.