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.
U. 173 INSERM Hôpital Necker-Enfants-Malodes, Paris.
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J
de Grouchy
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Turleau
D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002880:Chromosomes, Human, Pair 11; D002882:Chromosomes, Human, Pair 13; D002884:Chromosomes, Human, Pair 15; D002886:Chromosomes, Human, Pair 17; D002892:Chromosomes, Human, Pair 22; D002898:Chromosomes, Human, Pair 8; D006801:Humans; D009006:Monosomy; D013577:Syndrome; D014314:Trisomy