Simon M, Kelemen J, Szörényi A, Hammer H, Dobozy A
Hautarzt. 1979 Jun;30(6):291-4.
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.
报告了一名患有结节性硬化症的患者的病史,该患者有普林格尔皮脂腺瘤、甲周纤维瘤、癫痫、视网膜晶状体瘤、肾错构瘤和指骨囊肿样病变。在该患者中观察到10号染色体的嵌合三体性。