Romain D R, Chapman C J
Department of Laboratory Services, Wellington Hospital, New Zealand.
Clin Genet. 1992 Jan;41(1):33-5. doi: 10.1111/j.1399-0004.1992.tb03625.x.
Routine parental blood analysis for a couple undergoing prenatal diagnosis because of maternal age, revealed a 47,XXX karyotype in the mother and expression of the fragile site Xq27.3 in the father. Additional family studies show the fragile site in the father's sister and her two sons. There is no history of intellectual handicap in this family, nor of any physical manifestations of the Fra(X) mental retardation syndrome.
一对因母亲年龄接受产前诊断的夫妇进行常规父母血液分析时，发现母亲的核型为47,XXX，父亲存在脆性位点Xq27.3的表达。进一步的家族研究显示，父亲的妹妹及其两个儿子也存在该脆性位点。这个家族没有智力障碍病史，也没有脆性X智力低下综合征的任何身体表现。
