[16p11.2 Microdeletion: first report in Argentina]

Area of Science:

• Genetics
• Neurodevelopmental Disorders

Background:

• The 16p11.2 microdeletion is a recurrent genetic cause of developmental delay, intellectual disability, and autism spectrum disorder.
• The phenotypic spectrum associated with this microdeletion is highly variable, ranging from severe intellectual disability and congenital anomalies to a normal phenotype.

Observation:

• Genomic testing, such as chromosomal microarray, identifies the 16p11.2 microdeletion.
• Predicting individual patient phenotype based solely on deletion location is challenging due to numerous genomic variants and their potential functional effects.

Findings:

• This report details the clinical findings in two subjects with heterozygous 16p11.2 microdeletions.
• Phenotypic and behavioral characteristics in these subjects influenced diagnostic strategies.

Implications:

• Accurate diagnosis of 16p11.2 microdeletions is crucial for effective patient management and genetic counseling.
• Understanding the variable expressivity of 16p11.2 microdeletions aids in clinical interpretation and counseling.