title: The fragile X syndrome: variability of expression in carrier females.
abstract: The fra(X) expression in heterozygotes varies considerably from family to family. In family D23, 5 carriers express the fra(X) regardless of age. DNA studies using 3 markers were inconclusive as to whether cytogenetic testing is more reliable in this family than in others. III-2 and III-5 are the critical individuals in the pedigree; further study with closer probes should resolve this question.
authors.affiliation: Department of Pathology, U. Texas Health Science Center at Dallas.
authors.forename: P N
authors.initials: PN
authors.lastname: Howard-Peebles
authors.forename: W T
authors.initials: WT
authors.lastname: Brown
mesh_terms: D015342:DNA Probes; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics*; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000235:genetics*
chemical_list: D015342:DNA Probes; D005819:Genetic Markers