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

✍ Scribed by Lopez-Rangel, E. ;Hrynchak, M. ;Friedman, J. M.

Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 340 KB
Volume: 47
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320470306

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✦ Synopsis

We describe a 61h-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. KEY WORDS cardiovascular, facial anomalies, cutaneous abnormalities, developmental delay O 1993 Wiiey-Liss, ~nc.

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