An intrachromosomal insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations.

We report familial adenomatous polyposis coli (FAPC) with epidermoid cysts, osteomata, and areas of congenital hypertrophy of the retinal pigment epithelium (CHRPEs) in a male patient and his maternal aunt, both of whom suffered a mild to moderate degree of mental handicap. Both had an interstitial...

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Detalhes bibliográficos
Main Authors: Cross, I, Delhanty, J, Chapman, P, Bowles, L V, Griffin, D, Wolstenholme, J, Bradburn, M, Brown, J, Wood, C, Gunn, A
Formato: Artigo
Idioma:Inglês
Publicado em: 1992
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015892/
https://ncbi.nlm.nih.gov/pubmed/1313112
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