Deletion of chromosome 11(p11p13) in a patient with Beckwith-Wiedemann syndrome.
Four cases of duplication of a segment of 11p have been reported in patients with Beckwith-Wiedemann syndrome (Waziri et al. 1983, Turleau et al. 1984). We describe a patient with Beckwith-Wiedemann syndrome who has a deletion of chromosome 11(p11p13) and suggest involvement of this chromosomal region in both the duplicated and deleted states such as occurs in Prader-Willi syndrome.
D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics*; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D005260:Female; D006801:Humans; D007223:Infant