1p36 deletion syndrome is one of the most common chromosomal anomalies and as its name indicates is a genetic disorder caused by the loss of a fragment of the short arm terminal of chromosome 1. The incidence is 1/5,000-1/10,000 live births. Individuals with this disease survive until adulthood.
Most frequent clinical findings in patients with 1p36 deletion syndrome:
- Craniofacial dimorphisms
- Congenital hypotonia which makes feeding difficult
- Delayed motor development
- Delayed or absent speech
- Intellectual deficits
- Structural brain anomalies
- Seizures
- Congenital heart defects
- Problems in eyes/vision
- Hearing loss
Additional information
1p36dsa.org – 1p36 deletion, support and awareness