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以前的文献仅报告两例男性49,XXX-YY染色体结构。本文报告第三例病人并进行了描述。先证者是第七胎,为一38岁妇女和其丈夫44岁时的最后一次妊娠所生。父、母亲无血缘关系。母亲于八年前患糖尿病;病人有4个姐姐,一个哥哥和49个健康的侄子和侄女;此外,其母亲曾有过一次自然流产。目前,患者29岁,患有严重的智力迟钝,因急性糖尿病合并胰腺炎被收容入院。糖尿病由于肾孟肾炎而加重,入院后两个月被控制。检查发现,患者智力迟钝,类无睾症的性腺机能减退,身高176厘米,UBS84,LBS92
Previous literature reported only two male 49, XXX-YY chromosomal structures. This article reports the third patient and describes it. The proband is the seventh child born at the age of 44 for a 38-year-old woman and her husband. Father and mother have no blood relationship. Mother had diabetes eight years ago; she had 4 sisters, one older brother and 49 healthy nephews and nieces; in addition, her mother had had a spontaneous abortion. At present, the patient is 29 years old and suffers from severe mental retardation because of acute diabetes mellitus with pancreatitis admitted to hospital. Diabetes mellitus is aggravated by renal and nephritis, and two months after admission is controlled. Examination revealed that patients with mental retardation, hypogonadal dementia, height 176 cm, UBS84, LBS92