A Young Boy with 21q21.1 Microdeletion Showing Speech Delay, Spastic Diplegia, and MRI Abnormalities: Original Case Report

Chromosome 21q deletion syndrome is a rare disorder affecting the long arm of chromosome 21 and manifesting with wide phenotypic features depending on the size and position of the deleted region. In the syndrome, three distinct deleted regions have been distinguished: region 1, from the centromere t...

Descripción completa

Detalles Bibliográficos
Autores principales: Pavone, Piero, Falsaperla, Raffaele, Ruggieri, Martino, Marino, Simona Domenica, Parano, Enrico, Pappalardo, Xena Giada
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Georg Thieme Verlag KG 2023
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10471428/
https://www.ncbi.nlm.nih.gov/pubmed/37663643
http://dx.doi.org/10.1055/s-0043-1774291

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10471428/
https://www.ncbi.nlm.nih.gov/pubmed/37663643
http://dx.doi.org/10.1055/s-0043-1774291

Ejemplares similares