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1p36 deletion syndrome: first case report in Morocco detected by fluorescence in situ hybridization

The 1p36 deletion syndrome results from a heterozygous deletion of the terminal chromosomal band of the short arm of chromosome 1. Monosomy 1p36 is the most common terminal deletion observed in men (1 in 5000 newborns), characterized by distinctive dysmorphia, delayed growth, psychomotor retardation...

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Detalles Bibliográficos
Autores principales: Dafir, Kenza, Bouzid, Fatima Zahra, Mansouri, Maria, Aboussair, Nisrine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The African Field Epidemiology Network 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7934206/
https://www.ncbi.nlm.nih.gov/pubmed/33738037
http://dx.doi.org/10.11604/pamj.2020.37.349.26166