[Unusual mosaicism of chromosome 10 trisomy in a female patient with the Bourneville-Pringle syndrome].
The case history of a patient with tuberous sclerosis with adenoma sebaceum of Pringle, periungual fibromata, epilepsy, retinal phacomata, renal hamartomata and cyst-like lesions of the phalanges is reported. Mosaic trisomy of chromosome 10 was observed in the patient.
D000328:Adult; D000792:Angiography; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D007668:Kidney / Q000098:blood supply; D009030:Mosaicism; D014314:Trisomy; D014402:Tuberous Sclerosis / Q000175:diagnosis* / Q000000981:diagnostic imaging
Ein seltener Mosaizismus der Chromosom-10-Trisomie bei einer Patientin mit Bourneville-Pringle-Syndrom.