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

Internet

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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