Mid-trimester absent nasal bone and transient unilateral hydronephrosis associated with 16p13.3 microduplication

Area of Science:

• Genetics
• Developmental Biology
• Medical Diagnostics

Background:

• 16p13.3 microduplication syndrome is a rare genetic disorder.
• Key features include intellectual disability, musculoskeletal anomalies, dysmorphic facial features, and congenital heart defects.
• The CREBBP gene is frequently involved in reported cases.

Observation:

• This study reports an incidental finding of 16p13.3 microduplication in a fetus.
• The fetus presented with absent nasal bone and transient unilateral hydronephrosis during mid-trimester ultrasound.
• This observation highlights potential prenatal sonographic markers.

Findings:

• Microduplications of the 16p13.3 region, particularly those involving the CREBBP gene, are associated with characteristic phenotypic features.
• The CREBBP gene appears to be dosage-sensitive, contributing to the syndrome's phenotype.
• This case underscores the potential for genetic microduplications to be identified through routine prenatal screening.

Implications:

• Early identification of 16p13.3 microduplication syndrome can facilitate timely intervention and management.
• Understanding the role of CREBBP dosage is crucial for comprehending the syndrome's pathogenesis.
• Prenatal diagnosis of genetic anomalies can guide clinical management and genetic counseling.