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

Katherine A Rauen, Philip D. Cotter, Sheila M. Bitts, Victoria A. Cox, Mahin Golabi

Research output: Contribution to journalArticle

29 Scopus citations


We report on a 19-month-old girl who presented with the phenotype of cardio-facio-cutaneous (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→q22 as a candidate region for the gene(s) causing CFC syndrome. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)219-222
Number of pages4
JournalAmerican Journal of Medical Genetics
Issue number3
StatePublished - Jun 12 2000
Externally publishedYes



  • Cardio-facio-cutaneous syndrome
  • Chromosome 12
  • Deletion
  • Noonan syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

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