Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome

Am J Med Genet. 1999 Sep 10;86(2):112-4. doi: 10.1002/(sici)1096-8628(19990910)86:2<112::aid-ajmg4>3.0.co;2-3.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Child, Preschool
  • Chromosome Inversion*
  • Family Health
  • Female
  • Humans
  • Infant
  • Intellectual Disability / genetics
  • Karyotyping
  • Male
  • Pedigree
  • Syndrome
  • X Chromosome / genetics*