Beckwith-Wiedemann syndrome. Clinical comparison between patients with and without 11p15 trisomy.
Thirteen previously unreported patients with Beckwith-Wiedemann syndrome are reported. They include two unrelated patients having developed nephroblastoma, and three sibs. High resolution banding techniques failed to show any evidence of trisomy 11p15 in any of these 13 patients. The clinical pictures of Beckwith-Wiedemann syndrome with and without trisomy 11p15 are compared.
D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics*; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D007680:Kidney Neoplasms / Q000150:complications; D008297:Male; D011247:Pregnancy; D014314:Trisomy; D009396:Wilms Tumor / Q000150:complications