Keywords
Cleft Palate
Intellectual Disability
How to Cite
Abstract
The 22q11 deletion syndrome is the most common chromosomal microdeletion, with a prevalence of 1 in 3 to 6000 live births. Two pediatric female cases with microdeletion in 22q11.2 will be presented by genomic hybridization with loss of 2.54 Mb and 3 Mb each. Case 1: 12 years old, with seizures, dysmorphic features, Ostium secundum type CIA. Case 2: 11 years old, palatal alteration, hypermobility, asymptomatic hypocalcemia, and vitamin D deficiency. Both share dysmorphic features, global neurodevelopmental delay, and normal karyotype. This study demonstrates key features of the syndrome that allows optimizing the diagnosis in future cases.References
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