自1970年至1982年作者共诊断常染色体畸变(不包括Down氏综合征)111例,男45例,女66例。对其中94例调查了泌尿生殖系先天性异常情况,诊断方法包括体格检查、排泄性尿路造影、排尿期膀胱尿道造影和/或尸解。共发现53个病人有泌尿生殖系先天性异常,占56%。生殖系异常中最多的是隐睾(18例),其次是巨阴蒂(9例)、小阴茎(8例)、阴唇发育不良(6例)、阴囊发育不良和尿道下裂(各3例)。泌尿系异常中最常见的是马蹄肾(14例), A total of 111 autosomal abnormalities (excluding Down’s syndrome) were diagnosed between 1970 and 1982 in 45 males and 66 females. Ninety-four cases were investigated for genitourinary congenital abnormalities. The diagnostic methods include physical examination, excretion urography, urinary bladder and urethroplasty and / or autopsy. A total of 53 patients were found to have genitourinary congenital anomalies, accounting for 56%. Genitourinary abnormalities were the most common cryptorchidism (18 cases), followed by giant clitoris (9 cases), small penis (8 cases), labia majora (6 cases), scrotal dysplasia and hypospadias (3 cases each) . Urinary tract abnormalities are the most common horseshoe kidney (14 cases)