Deletion Syndrome 22q11.2: A Systematic Review

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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Bibliographic Details
Main Authors: Jonathan Cortés-Martín, Nuria López Peñuela, Juan Carlos Sánchez-García, Maria Montiel-Troya, Lourdes Díaz-Rodríguez, Raquel Rodríguez-Blanque
Format: Article
Language:English
Published: MDPI AG 2022-08-01
Series:Children
Subjects:
22q11.2 deletion syndrome
DiGeorge syndrome
velocardiofacial syndrome
rare disease
congenital anomalies
daily activities
Online Access:https://www.mdpi.com/2227-9067/9/8/1168

Internet

https://www.mdpi.com/2227-9067/9/8/1168

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