title: Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome.
abstract: FG syndrome is an X-linked incomplete recessive condition comprising mental retardation, congenital hypotonia, macrocephaly, a distinctive facial appearance, and constipation or anal malformations. Here, we report on a chromosome X inversion [inv(X)(q12q28)] in a boy with FG syndrome and in his mentally retarded maternal uncle, and we discuss the possible involvement of this paracentric inversion in the FG syndrome.
authors.affiliation: Service de Génétique, CHU Bretonneau, Tours, France. briault@med.univ-tours.fr
authors.forename: S
authors.initials: S
authors.lastname: Briault
authors.forename: S
authors.initials: S
authors.lastname: Odent
authors.forename: J
authors.initials: J
authors.lastname: Lucas
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
authors.forename: C
authors.initials: C
authors.lastname: Turleau
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: C
authors.initials: C
authors.lastname: Moraine
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D007446:Chromosome Inversion; D005192:Family Health; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome / Q000235:genetics*