
18q deletion syndrome
18q deletion syndrome is a genetic condition where part of the long arm (q) of chromosome 18 is missing. This deletion can cause a range of health and developmental issues, including intellectual disabilities, small stature, distinctive facial features, and sometimes heart or kidney problems. The severity and specific symptoms vary depending on how much of the chromosome is missing. Since it's a genetic condition, it’s present from birth, but the effects can differ widely among individuals. diagnosis is typically made through genetic testing, such as a chromosomal analysis.