Phenotypic Heterogeneity of 16p11.2 Microdeletion Syndrome: 5 Case Reports

Area of Science:

• Genetics
• Neurodevelopmental Disorders
• Pediatrics

Background:

• 16p11.2 microdeletion syndrome is a rare genetic disorder with highly variable clinical presentations.
• Affected individuals may exhibit normal phenotypes or neurodevelopmental pathologies, dysmorphology, epilepsy, cardiac anomalies, and obesity.

Purpose of the Study:

• To describe the clinical heterogeneity of 16p11.2 microdeletion syndrome.
• To highlight the importance of genetic testing for diagnosis and management.

Main Methods:

• Case series involving five individuals with 16p11.2 microdeletion.
• Utilized array comparative genomic hybridization (array-CGH) for genetic testing.
• Emphasized multidisciplinary follow-up for all cases.

Main Results:

• All five cases demonstrated the 16p11.2 microdeletion.
• Common findings included macrocephaly, obesity, speech and developmental delays, intellectual disability, and ADHD.
• Epilepsy and cardiac pathology were notably absent in these cases.

Conclusions:

• 16p11.2 microdeletion syndrome exhibits significant clinical variability, with frequent neurodevelopmental involvement.
• Array-CGH is essential for diagnosing individuals with developmental delays or autism spectrum disorder.
• Early diagnosis facilitates timely intervention and genetic counseling.