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Fragile X demonstrated retrospectively in amniotic cells cultured in low folate medium
Author(s) -
Nielsen Lise Bjerglund,
Nielsen Karen Brøndum,
Tommerup Niels
Publication year - 1983
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.1970030417
Subject(s) - amniocentesis , amniotic fluid , andrology , chromosome , pregnancy , psychomotor retardation , prenatal diagnosis , fetus , microbiology and biotechnology , biology , medicine , obstetrics , pathology , genetics , alternative medicine , gene
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.