Experiences in microarray-based evaluation of developmental disabilities and congenital anomalies

Area of Science:

• Genetics
• Molecular Biology
• Clinical Diagnostics

Background:

• Chromosomal microarray analysis (CMA) is a primary diagnostic tool for developmental disabilities and congenital anomalies.
• This study analyzes CMA results from 971 patients and 301 parents.

Purpose of the Study:

• To report CMA findings in a cohort of patients with developmental disabilities.
• To identify frequent benign variants within the Turkish population.
• To highlight CMA's utility in detecting various genetic alterations.

Main Methods:

• Chromosomal microarray analysis (CMA) was performed on 971 patient samples and 301 parent samples.
• Results were analyzed using established databases and an in-house variant database.
• Pathogenic variants were identified and characterized.

Main Results:

• Pathogenic variants were detected in 13.6% (133 out of 971) of patient samples.
• The study identified and reported the most frequent benign variants specific to the Turkish population.
• CMA demonstrated efficacy in detecting copy number variations.

Conclusions:

• CMA is a powerful tool for diagnosing genetic disorders, including single-gene disorders.
• The study contributes valuable data on variant frequencies in the Turkish population.
• CMA has the potential to reveal novel gene-phenotype associations.