Molecular genetic diagnosis of the familial myxoma syndrome (Carney complex).
Am J Med Genet
; 86(1): 62-5, 1999 Sep 03.
Article
em En
| MEDLINE
| ID: mdl-10440831
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.
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Base de dados:
MEDLINE
Assunto principal:
Testes Genéticos
/
Mixoma
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1999
Tipo de documento:
Article
País de afiliação:
Estados Unidos