Cardio-facio-cutaneous (CFC) syndrome in a child carrying an inherited inversion of chromosome 7

Am J Med Genet. 1993 Sep 1;47(3):326-9. doi: 10.1002/ajmg.1320470306.

Abstract

We describe a 6 1/2-year-old girl with the cardio-facio-cutaneous (CFC) syndrome. She presents with most of the characteristics of this condition: typical facial changes, congenital heart defect, slow growth, ectodermal dysplasia, and developmental delay. Chromosome analysis disclosed a 46,XX,inv(7)(q21.2q31.2) mat karyotype.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child
  • Chromosome Aberrations / genetics*
  • Chromosome Aberrations / pathology
  • Chromosome Disorders
  • Chromosome Inversion*
  • Chromosomes, Human, Pair 7 / ultrastructure*
  • Ectodermal Dysplasia / genetics*
  • Face / abnormalities*
  • Female
  • Growth Disorders / genetics
  • Heart Atria / abnormalities
  • Heart Defects, Congenital / genetics*
  • Humans
  • Intellectual Disability / genetics
  • Mitral Valve / abnormalities
  • Syndrome