title: [Fragile X chromosomes and fragile X syndrome].
abstract: A case story is presented of a child diagnosed by chromosome analysis to be carrier of the fragile X chromosome at a low frequency in cultured lymphocytes. DNA analysis of the FMR1 gene at a later date did not reveal expansion of the FMR1 repeat, thereby refuting the diagnosis of fragile X syndrome. The discrepancy was discovered only when years later other family members came for counselling due to subsequent development of DNA-based analyses. It is recommended that persons and families investigated before DNA methods were used are re-evaluated and re-examined when relevant. Genetic diagnoses need regular revision, and information to families is important.
authors.affiliation: Kennedy Instituttet-Statens Øjenklinik, Glostrup.
authors.forename: Susanne Eriksen
authors.initials: SE
authors.lastname: Boonen
authors.forename: Karen
authors.initials: K
authors.lastname: Grønskov
authors.forename: Karen
authors.initials: K
authors.lastname: Brøndum-Nielsen
mesh_terms: D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics*; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D008297:Male
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human