Benítez J, Fernández E, Ramos C, Nunes V, del Río E, Baiget M
Rev Clin Esp. 1989 Apr;184(7):364-6.
The prenatal diagnosis in a family carrying the Fragile Chromosome X Syndrome (sex linked mental retardation) has been performed using Recombinant DNA techniques. The use of these techniques together with cytogenetics and prenatal diagnosis using chorial biopsy, have enabled the diagnosis of the disease on a male foetus on the twelfth week of pregnancy. Similarly, we have been able to confirm the carrier state of the mother (proven) and the grand mother, and furthermore, the non affected condition of an older son to this mother. The results obtained reveal the importance of the new molecular techniques applied to the diagnosis of certain diseases with a genetic origin.
对于一个携带脆性X染色体综合征（X连锁智力发育迟缓）的家族，已采用重组DNA技术进行产前诊断。这些技术与细胞遗传学以及使用绒毛活检的产前诊断相结合，使得在怀孕第12周时就能对男性胎儿进行该疾病的诊断。同样，我们得以确认母亲（已证实）和祖母的携带者状态，此外，还确认了这位母亲的大儿子未受影响。所获得的结果揭示了应用新分子技术诊断某些遗传性疾病的重要性。
