Terminal 6q27 Microdeletion Syndrome: A Case Report

A 10-year-old female with a history of global developmental delay (reduced concentration, cognitive impairment, and difficulty in reading and writing), scoliosis, aggressiveness, toe walking, and brain malformations was observed in the pediatric development outpatient consultation of Hospital de San...

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Detalles Bibliográficos
Autores principales: Ferreira Vieira, Maycoll, Carvalho, Daniela, Valentim, Filipa, Branco, Diogo M, Marinho, Helena Martinha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9720043/
https://www.ncbi.nlm.nih.gov/pubmed/36475138
http://dx.doi.org/10.7759/cureus.31037
Descripción
Sumario:A 10-year-old female with a history of global developmental delay (reduced concentration, cognitive impairment, and difficulty in reading and writing), scoliosis, aggressiveness, toe walking, and brain malformations was observed in the pediatric development outpatient consultation of Hospital de Santo Espírito da Ilha Terceira (HSEIT), Azores, Portugal. A genetic study was carried out and showed a terminal 6q27 microdeletion, a rare disorder. Being so rare, it’s important to share with the wider medical community any of such cases so early diagnosis can occur and interventions may be developed.

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