What is Chromosome 9q duplication/chromosome 9p deletion syndrome?
• Chromosome 9q duplication/chromosome 9p deletion syndrome: A rare chromosomal disorder where part of the long arm (q) of chromosome 9 is duplicated and part of the short arm (p) is deleted resulting in various abnormalities. These chromosomal abnormality occurs in only some of the body’s cells (mosaicism). • Chromosome 9q duplication/chromosome 9p deletion syndrome: Mosaicism for a balanced translocation with partial duplication of the long arm of chromosome 9 and partial deletion of the short arm of chromosome 9 are associated with craniofacial dysmorphism, delayed psychomotor development camptodactyly, brain atrophy, and cardiovascular and intestinal abnormalities.
