Autosomal mendelian disorders and microcytogenetics

The development of cytogenetic high resolution banding techniques has allowed the observation of specific chromosome rearrangements--i.e. microdeletions, translocations--in patients with morbid conditions suspected to have a genetic component but for which a precise etiology had not, or rarely, been recognized. The most striking examples are retinoblastoma, the WAGR complex, Beckwith-Wiedemann syndrome, Langer-Giedion syndrome, Prader-Willi syndrome, Miller-Dieker syndrome and others, which thus could be mapped to the genome. Molecular technology further allowed in a number of cases cloning of the genes proper or of linked DNA polymorphisms permitting genetic counseling.