New Phenotypic Feature in a Patient With a Rare Triplication of the 22q11.2 Region Presenting With Peters Anomaly, Congenital Heart Disease, and Global Developmental Delay: A Case Report and Literature Review

The vulnerability of chromosome 22q11.2 region to rearrangement is due to several low copy repeat (LCR) sequences. These rearrangements are involved in syndromes that share similar phenotypic features. The rearrangements of the 22q11.2 chromosomal region are common, specifically, duplications and de...

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Detalles Bibliográficos
Autores principales: Idris, Isra, Pandey, Abinash, Awadelkarim, Abdalaziz M, Saad, Eltaib A, Medows, Marsha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9209342/
https://www.ncbi.nlm.nih.gov/pubmed/35747112
http://dx.doi.org/10.7759/cureus.26071

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9209342/
https://www.ncbi.nlm.nih.gov/pubmed/35747112
http://dx.doi.org/10.7759/cureus.26071

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