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Prenatal diagnosis of fragile X in a heterozygous female fetus and postnatal follow‐up
Author(s) -
Wilson Miriam G.,
Marchese Cristiana A.
Publication year - 1984
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970040109
Subject(s) - fragile x syndrome , fragile x , fetus , prenatal diagnosis , pregnancy , heterozygote advantage , medicine , chromosomal fragile site , obstetrics , biology , genetics , genotype , psychiatry , gene , chromosome
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.