Cardio-facio-cutaneous (CFC) syndrome in a child carrying an inherited inversion of chromosome 7.
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.
Lopez-Rangel
E
E
Department of Medical Genetics, University of British Columbia and University Hospital, Vancouver, Canada.
Hrynchak
M
M
Friedman
J M
JM
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002897:Chromosomes, Human, Pair 7 / Q000648:ultrastructure*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006325:Heart Atria / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008943:Mitral Valve / Q000002:abnormalities; D013577:Syndrome