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Chromosome 2 Interstitial Deletion (del(2)(q14.1q22.1) Syndrome With Novel Skeletal and Central Nervous System Features

In this report, we present the case of a Saudi baby boy with a rare de novo interstitial deletion of chromosome 2q14.1-q22.1. His karyotype was confirmed as 46,XY 1(?)q14.2-1q21.3) but further investigation using chromosomal microarray analysis yielded the deletion breakpoints as 2q14.1q22.1. To dat...

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Detalles Bibliográficos
Autores principales:	Albarakati, Rayyan, Ababneh, Faroug, Alharbi, Mohammed, Alzahrani, Rakan S, Almutairi, Mohammed F
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830841/ https://www.ncbi.nlm.nih.gov/pubmed/36636524 http://dx.doi.org/10.7759/cureus.33586

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