Mosaic trisomy 15 and hemihypertrophy

We report a case of mosaic trisomy 15 with mental retardation, facial dysmo rphism, and hemihypertrophy, but no manifestations of Prader-Willi or Angel man syndromes. Mosaic trisomy 15 (11%) was discovered at the amniocentesis. Uniparental disomy for chromosome 15 was excluded by molecular analysis. P ost-natal blood karyotype and examination were normal. Mosaic was confirmed on skin fibroblasts, placenta and cord. Evolution was marked by progressiv e right hemi-hypertrophy, and developmental delay. Our case is the first pa tient reported with hemihypertrophy associated with mosaic trisomy 15. The relevant literature is reviewed. (C) 2001 Editions scientifiques et medical es Elsevier SAS.