Microduplication and Microdeletion Syndromes Diagnosed Prenatally Using Single Nucleotide Polymorphism Array.

Area of Science:

• Genetics
• Medical Diagnostics
• Human Diseases

Background:

• Microdeletion and microduplication syndromes (MMSs) are genetic disorders involving small chromosomal changes (<5 Mb).
• These syndromes present diagnostic and management challenges, particularly during prenatal and clinical care.
• MMSs manifest with diverse symptoms including intellectual disability, developmental delays, congenital anomalies, and neurobehavioral issues.

Purpose of the Study:

• To analyze clinical cases of MMSs observed between 2020 and 2023.
• To investigate the genetic underpinnings and prenatal ultrasound findings of MMSs, focusing on intellectual disability associations.
• To enhance understanding and awareness of MMSs by bridging research with clinical practice.

Main Methods:

• Review of clinical cases diagnosed with MMSs over a three-year period.
• Utilized SNP array technology for copy number variation (CNV) analysis.
• Examined prenatal ultrasound findings and genetic data in relation to clinical manifestations.

Main Results:

• Presented a series of MMS cases encountered in clinical practice.
• Detailed genetic foundations and prenatal diagnostic insights for various MMSs.
• Emphasized the role of CNV analysis in diagnosing MMSs associated with intellectual disability.

Conclusions:

• Early prenatal diagnosis of MMSs is crucial for informed decision-making and planning medical interventions.
• Clinical case studies provide valuable data for improving the diagnosis and management of MMSs.
• Enhanced awareness and knowledge exchange are vital for addressing these complex genetic conditions.