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Deletion Syndrome 22q11.2: A Systematic Review

22q11.2 deletion syndrome (DS 22q11.2) is a rare disease of genetic origin, caused by the loss of the q11.2 region of chromosome 22. It affects one in 4000 live newborns, and among the clinical manifestations that can occur in this syndrome are abnormalities in the parathyroid glands (producing calc...

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Principais autores: Jonathan Cortés-Martín, Nuria López Peñuela, Juan Carlos Sánchez-García, Maria Montiel-Troya, Lourdes Díaz-Rodríguez, Raquel Rodríguez-Blanque
Formato: Artigo
Idioma:Inglês
Publicado: MDPI AG 2022-08-01
Series:Children
Assuntos:
22q11.2 deletion syndrome
DiGeorge syndrome
velocardiofacial syndrome
rare disease
congenital anomalies
daily activities
Acceso en liña:https://www.mdpi.com/2227-9067/9/8/1168
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