A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia

INTRODUCTION: There is evidence that neurodevelopmental disorders are associated with chromosomal abnormalities. Current genetic testing can clinch an exact diagnosis in 20–25% of such cases. Case Description. A 3 years and 11 months old boy with global developmental delay had repetitive behaviors a...

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Detalles Bibliográficos
Autores principales: Bajracharya, Luna, Lall, Meena, Bijarnia-Mahay, Sunita, Kumar, Praveen, Mushtaq, Imran, Saviour, Pushpa, Paliwal, Preeti, Joshi, Anju, Agarwal, Shruti, Suman, Praveen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10593553/
https://www.ncbi.nlm.nih.gov/pubmed/37876589
http://dx.doi.org/10.1155/2023/7974886

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10593553/
https://www.ncbi.nlm.nih.gov/pubmed/37876589
http://dx.doi.org/10.1155/2023/7974886

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