title: [Detection of triple X syndrome during a familial inquiry for hemophilia A].
abstract: In order to give a genetic counsel to the mother and the two twin-sisters of an Hemophilia A boy, a familial investigation has been carried out. The study with the restriction fragment length polymorphism probes together with the hemostasis screening enabled to specify the status of each member of the family with respect to hemophilia A gene. This investigation evidenced the presence of two maternal alleles and one paternal allele in one of the twin-sisters. This led us to assume that she had a chromosomal abnormality in spite of her normal phenotype. The 47, XX, +(X) result of her karyotype confirmed this assumption. Therefore an accurate genetic counsel was provided to the members of this family and more particularly to the triple X subject.
authors.affiliation: Service de Génétique Médicale, Toulouse.
authors.forename: H
authors.initials: H
authors.lastname: Plaisancie
authors.forename: G
authors.initials: G
authors.lastname: Bourrouillou
authors.forename: P
authors.initials: P
authors.lastname: Calvas
authors.forename: P
authors.initials: P
authors.lastname: Colombies
mesh_terms: D005260:Female; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014314:Trisomy; D014960:X Chromosome
vernacular_title: Découverte d'un syndrome de triplo X lors d'une enquête familiale pour hémophilie A.