Abnormality of chromosome 11 in patients with features of Beckwith-Wiedemann syndrome.
Two unrelated children with features of Beckwith-Wiedemann syndrome have been found to have partial duplication of chromosome 11p. A review of six other reported cases of partial duplication of 11 p revealed features of this syndrome not previously recognized. We suggest that karyotype studies with banding techniques should be done in children with features of Beckwith-Wiedemann syndrome and developmental delay or retardation.
D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male