Autio-Harmainen H, Rapola J, Aula P
Clin Genet. 1980 Jul;18(1):1-5. doi: 10.1111/j.1399-0004.1980.tb01356.x.
During a 3-year period in which 1500 amniotic fluid samples were studied, six cases of sex chromosome abnoramlity were detected antenatally: two with XXX, three with XYY and one with XXXXY sex chromosome constitution. After careful counselling, the parents in each case chose termination of the pregnancy, which was performed at the 20th week of gestation. All fetuses appeared normal and showed no gross malformations. Histologic investigation of the gonads of the XXXXY, one XYY and one XXX fetus showed a normal overall picture. The number of spermatogonia in the seminiferous tubules of the XXXXY male fetus was markedly reduced and the testes of the XYY fetus also contained less spermatogonia than testes from control fetuses.
在对1500份羊水样本进行研究的3年期间，产前检测到6例性染色体异常病例：2例为XXX，3例为XYY，1例为XXXXY性染色体组成。经过仔细咨询，每个病例的父母都选择了终止妊娠，在妊娠第20周进行。所有胎儿外观正常，未发现明显畸形。对XXXXY、1例XYY和1例XXX胎儿的性腺进行组织学检查，总体情况正常。XXXXY男性胎儿生精小管中的精原细胞数量明显减少，XYY胎儿的睾丸中精原细胞也比对照胎儿的睾丸少。
