一例48,XXYY综合征的产前诊断及其中孕期的病理分析

A case of 48,XXYY syndrome,prenatal diagnosis and pathological changes of middle trimester

目的探寻48,XXYY发生原因及其在中孕期的病理改变。方法对夫妇双方外周血淋巴细胞及胎儿羊水细胞进行培养并制作中期染色体片进行G显带分析。对流产胎儿进行尸体检查,对胎儿睾丸组织作病理切片分析。结果孕妇核型为46,XX,胎儿父亲为46,XY,inv(9)(p12q13),胎儿核型为48,XXYY。病理检查胎儿外观未见异常,体长大于同孕周胎儿,尸体检测未发现有器官异常;睾丸病理切片检查未发现有纤维化情况,血睾屏障正常。结论 48,XXYY综合征患者在胎儿期器官无器质性变化,睾丸无纤维化,综合之前报道的此类病人成年期睾丸的变化,我们可以推断该类病人睾丸发育异常应该发生在出生后的时期,早期发现该类病人尽早治疗可能会有较好的效果。

Objective：To explore the causes of 48,XXYY syndrome and its pathological changes during the second trimester. Methods：The couple＇s blood lymphocytes and amniotic fluid cells of pregnant women were cultured and metaphase chromosome slices were made for G banding analysis.Autopsy of aborted fetuses was performed and pathological sections of fetal testes were analyzed. Results：The karyotype of pregnant women was 46,XX,fetal father was 46,XY,inv（9）（p12q13）and fetal karyotype was 48,XXYY.Pathological examination showed no abnormalities in the appearance of the fetus,and the body length was greater than that of the fetus at the same gestational age. No abnormal organs were found in the cadaveric examination. The pathological examination of testes showed no fibrosis and the blood-testis barrier was normal. Conclusion：48,XXYY syndrome in patients with no pathological changes in organs,no fibrosis in testes.Changes about testes of adult patients with previously reported such comprehensive,we can infer that the patient＇s testicular dysplasia occurs in the postnata period,early detection of this kind of patient treatment may have a good effect as soon as possible.