PARTIAL TRISOMY OF CHROMOSOME-15 WITH NEW PHENOTYPIC MANIFESTATIONS

A patient with a 15 partial trisomy and a 4 target chromosome in 100% of metaphases is presented. Phenotypic manifestations not previously d escribed were observed such as macrocephally, long face, low implantat ion of ears, narrow forehead, epicanthal fold, copious eyebrows and sy nophrys, short nasolabial distance, convergent strabismus, delayed buc al eruption, long neck, hypertrophy of thenar and hypothenar bulging a nd articular hypermobility. The eyeground was degeneratively myopic. T his case makes more extensive the variety of clinical manifestations o f this disease.