Maximilian C, Dumitriu L, Garoiu M, Pană I, Serbănescu M, Pop T, Ioan D
Endocrinologie. 1983 Jul-Sep;21(3):209-12.
A case of Turner's syndrome clinically and cytogenetically diagnosed in a 15-year old girl is reported. At age 4 the girl was hospitalized for renal malformations (doubling of the urethra and its ectopic opening). Laparatomy revealed a small tumoral formation which was removed. The diagnosis established anatomo-histologically was of sympathoblastoma. Since the tumor is genetically conditioned by an autosomal mutation, association of the gonosomial anomaly and sympathoblastoma is supposed to be fortuitious though it is not improbable that the tumor be the result of an embryonar disorder favourized by the chromosomal anomaly.
报告了一例在一名15岁女孩中临床和细胞遗传学诊断为特纳综合征的病例。该女孩4岁时因肾畸形(尿道重复及其异位开口)住院。剖腹手术发现一个小肿瘤性病变并将其切除。解剖组织学确诊为成神经细胞瘤。由于该肿瘤是由常染色体突变遗传决定的,所以性腺异常与成神经细胞瘤的关联被认为是偶然的,尽管该肿瘤是由染色体异常所促进的胚胎发育障碍的结果并非不可能。