Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: identification of a candidate region for CFC syndrome

Am J Med Genet. 2000 Jul 31;93(3):219-22. doi: 10.1002/1096-8628(20000731)93:3<219::aid-ajmg12>;2-5.


We report on a 19-month-old girl who presented with the phenotype of cardio-faciocutaneous (CFC) syndrome including characteristic minor facial anomalies, cardiac defect, ectodermal anomalies, and developmental delay. Cytogenetic analysis showed the presence of an interstitial deletion of one chromosome 12, del(12)(q21.2q22), confirmed by fluorescence in situ hybridization with chromosome band specific probes. Controversy exists as to whether CFC and Noonan syndrome (NS) are distinct disorders, a contiguous gene syndrome, or allelic variants. The identification of the del(12) in this patient, in a region distinct from the putative NS locus, supports the view that CFC is a genetically distinct condition from NS. In addition, this implicates the region 12q21.2-->4q22 as a candidate region for the gene(s) causing CFC syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics*
  • Alleles
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 12*
  • Developmental Disabilities / genetics
  • Facies
  • Female
  • Heart Defects, Congenital / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Models, Genetic
  • Noonan Syndrome / diagnosis
  • Noonan Syndrome / genetics
  • Phenotype*
  • Skin Abnormalities / genetics