Report of the committee on clinical disorders, chromosome aberrations and uniparental disomy

Abstract

There are more than 550 loci which have been associated with clinical disorders. Since HGM10.5, this number has been increased by 93 new entries belonging to all categories, from inborn errors of metabolism to congenital anomalies. In this report, we shall limit ourselves to hereditary diseases and congenital disorders and mention some constitutional liabilities to common diseases. We only list the references pertinent to the clinical disorders associated with mapped genes and not those relating to their assignment. Furthermore, we do not list the references already included in the preceeding reports (HGM10, HGM10.5)