Fragile X demonstrated retrospectively in amniotic cells cultured in low folate medium.

Chromosome analysis in a boy aged 10 months, with psychomotor retardation, revealed the fragile X-chromosome in lymphocytes and skin fibroblasts cultured in low folate medium (TC 199). Amniocentesis and chromosomal analysis had been carried out during pregnancy because of advanced maternal age. Review of the slides from amniotic fluid cells grown routinely in low folate medium showed the marker X in 10.6 per cent of the metaphases. Possible explanations for the appearance of the marker X in amniotic cell culture are discussed.