Cardio‐facio‐cutaneous (CFC) syndrome in a child carrying an inherited inversion of chromosome 7
- 1 September 1993
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 47 (3) , 326-329
- https://doi.org/10.1002/ajmg.1320470306
Abstract
We describe a 6½‐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)(q21.2q 31.2) mat karyotype.Keywords
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