title: [Molecular analysis of the parental origin of trisomy in two families with two children having regular trisomy 21].
abstract: In order to investigate the parental origin of the trisomy in two families with two free trisomy 21 affected siblings, cytogenetic and molecular analyses were performed. In each case the parental origin was the same for both patients. In one of the families an association between the concordance of the paternal origin of the trisomy and the existence of mosaicism in the blood was established. The various etiologies which may account for recurrence are discussed.
authors.affiliation: Centre de Recherches Claude Bernard sur la Génétique Humaine, Institut de Progenèse, Paris.
authors.forename: C
authors.initials: C
authors.lastname: Pangalos
authors.forename: J L
authors.initials: JL
authors.lastname: Serre
authors.forename: M
authors.initials: M
authors.lastname: Ghica
authors.forename: D
authors.initials: D
authors.lastname: Abazis
authors.forename: P M
authors.initials: PM
authors.lastname: Sinet
authors.forename: M O
authors.initials: MO
authors.lastname: Rethoré
authors.forename: J
authors.initials: J
authors.lastname: Lejeune
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002871:Chromosome Banding; D004247:DNA / Q000097:blood / Q000235:genetics; D004262:DNA Restriction Enzymes; D004314:Down Syndrome / Q000235:genetics*; D006801:Humans; D007962:Leukocytes / Q000166:cytology; D008297:Male; D008875:Middle Aged; D009030:Mosaicism; D010375:Pedigree
chemical_list: D004247:DNA; D004262:DNA Restriction Enzymes
vernacular_title: Analyse moléculaire de l'origine parentale de la trisomie dans deux fratries comportant deux enfants atteints de trisomie 21 libre.