Contrasting outcomes of 16p11.2 microdeletion and microduplication in prenatal diagnosis: phenotypic variability and genetic counseling strategies.
Qiu Guo, Li Zhang, Yi Zuo et al.
✦ AI-curated · Sources linked
Case in brief
This report discusses two prenatal cases involving 16p11.2 copy number variations. Case 1 presented with a de novo microdeletion and an ultrasound finding of an absent nasal bone, leading to pregnancy termination after genetic counseling. In contrast, Case 2 had a de novo microduplication and was born with a normal phenotype, highlighting the variability in outcomes associated with these genetic alterations.
Diagnostic / clinical pearl
Clinicians should recognize that 16p11.2 microdeletions and microduplications can lead to markedly different phenotypic outcomes, necessitating thorough genetic counseling and individualized risk assessment.
Why it matters
Understanding the phenotypic variability associated with 16p11.2 CNVs is crucial for effective prenatal counseling and management, as it impacts decision-making for families facing these diagnoses.