title: Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family.
abstract: The urofacial syndrome (UFS) or Ochoa syndrome has been reported as a rare autosomal recessive disorder comprising a uropathy and facial abnormalities. The gene was mapped on chromosome region 10q23-q24. We report the first European cases of UFS. Haplotype analyses in our French family were compared with those previously described in patients from Columbia and America (literature data). The results are compatible with the same localization of the critical region and favor the hypothesis of genetic homogeneity.
authors.affiliation: Department of Medical Genetics, Hôpital d'Enfants de la Timone, Marseille, France.
authors.forename: X
authors.initials: X
authors.lastname: Chauve
authors.forename: C
authors.initials: C
authors.lastname: Missirian
authors.forename: P
authors.initials: P
authors.lastname: Malzac
authors.forename: L
authors.initials: L
authors.lastname: Girardot
authors.forename: J M
authors.initials: JM
authors.lastname: Guys
authors.forename: C
authors.initials: C
authors.lastname: Louis
authors.forename: N
authors.initials: N
authors.lastname: Philip
authors.forename: M A
authors.initials: MA
authors.lastname: Voelckel
mesh_terms: D000293:Adolescent; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D005192:Family Health; D005260:Female; D005602:France; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D013577:Syndrome; D014524:Urethral Obstruction / Q000151:congenital / Q000235:genetics* / Q000473:pathology