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

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