‘Give Me a Name for What's Wrong With Him’: A Case Study of a Rare Chromosome Disorder

Abstract

The case is presented of a young boy with a rare chromosome disorder involving an interstitial deletion on chromosome 16 (16q11.2q13). Background information on chromosome disorders is presented along with a review of previous findings about the developmental consequences of chromosome 16q deletions. The case description illustrates the developmental and educational difficulties that may be associated with rare chromosome disorders and raises some important issues for guidance and counselling professionals.