Prenatal diagnosis of fragile X in a heterozygous female fetus and postnatal follow-up

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Abstract
An apparently normal female infant was born after the prenatal diagnosis of fragile Xq27×28 present in about 4 per cent of amniocytes. The mildly retarded mother had been found in early pregnancy to be heterozygous for fragile X. The child, now 9 months old. showed about the same level of fragile X expression as her mother. Variations in the proportion of cells with fragile X appeared to be related to cell type and laboratory techniques. The infant's growth and development have been normal. Different techniques to induce or increase the expression of fragile X are discussed.