A Case of Duplication 9q Syndrome

Since the first description of the trisomy 9p in 1970, over one hundred cases have been described with the advanced chromosomal banding technique. Clinical findings include growth and mental retardation and facial dysmorphism. Crucial determinants of the classical features of this syndrome lie within the distal half of the chromosome 9 short arm. But this syndrome has not been reported in Korea, we are reporting a boy diagnosed by clinical features and chromosomal study that is trisomic for a partial short arm of a chromosome 9. A brief review of the literature is included.