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Molecular genetic diagnosis of the familial myxoma syndrome (Carney complex)

Authors :
Goldstein, Marsha M.
Casey, Mairead
Carney, J. Aidan
Basson, Craig T.
Source :
American Journal of Medical Genetics. Part A; 3 September 1999, Vol. 86 Issue: 1 p62-65, 4p
Publication Year :
1999

Abstract

We describe an individual in whom molecular genetic testing provided a diagnosis of the Carney complex, an autosomal dominant syndrome comprising cutaneous and cardiac myxomas, spotty pigmentation of the skin, and endocrinopathy. Recently, we localized the Carney complex disease gene to chromosome region 17q2. Our patient was a member of a family segregating the Carney complex, but was not, himself, initially thought to be affected. Haplotype analysis based on genotyping studies with 17q2 microsatellites predicted that this individual was, in fact, affected by Carney complex and was at risk for development of myxomas. Further clinical evaluation and re-review of prior pathologic studies, then, confirmed the DNA-based diagnosis. This report highlights the difficulty in establishing a diagnosis of Carney complex based on clinical and pathologic findings alone, and we suggest that molecular genetic analyses provide an important diagnostic method for this familial myxoma syndrome. Am. J. Med. Genet. 86:62–65, 1999. © 1999 Wiley-Liss, Inc.

Details

Language :
English
ISSN :
15524825 and 15524833
Volume :
86
Issue :
1
Database :
Supplemental Index
Journal :
American Journal of Medical Genetics. Part A
Publication Type :
Periodical
Accession number :
ejs1285383
Full Text :
https://doi.org/10.1002/(SICI)1096-8628(19990903)86:1<62::AID-AJMG12>3.0.CO;2-1