SNP Shot: Genomic Insights

Warsaw breakage syndrome is a disorder characterized by a range of developmental issues. Individuals affected by this syndrome exhibit intellectual disability, with the severity varying among individuals. They also experience growth deficiencies beginning before birth, resulting in short height and an abnormally small head (microcephaly). Distinctive facial characteristics are often present, potentially including a small forehead, short nose, small lower jaw, a smooth philtrum (the area between the nose and upper lip), and prominent cheeks. Furthermore, sensorineural hearing loss (hearing loss due to nerve damage in the inner ear) and congenital heart defects are common features.

Inheritance:

The inheritance pattern for this condition is autosomal recessive. This means that for a person to be affected, they must inherit a mutated copy of the responsible gene from each parent. While each parent carries one copy of the mutated gene, they usually do not exhibit any signs or symptoms of the disorder.