Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study
| Autor: | Mary-Anne Young, S Distante, D J Cameron, R J Gardner, Susan M. Forrest, S Nasioulas, G R Somers |
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| Rok vydání: | 1996 |
| Předmět: |
Adult
Male Proband congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Genes APC Adenomatous polyposis coli medicine.medical_treatment media_common.quotation_subject DNA Mutational Analysis Familial adenomatous polyposis Genetics medicine Humans Girl Age of Onset Child Codon Pathological Colectomy Genetics (clinical) Aged media_common biology business.industry Middle Aged medicine.disease Adenomatous Polyposis Coli El Niño Child Preschool biology.protein Female Age of onset Gastrointestinal Hemorrhage business Research Article |
| Zdroj: | Journal of Medical Genetics. 33:157-160 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.33.2.157 |
| Popis: | A girl aged 5 years 8 months presented with rectal bleeding; her father had had familial adenomatous polyposis (FAP) and a colectomy at the age of 23. Endoscopy showed extensive polyposis and she had a colectomy. The proband and her father had the common codon 1309 5 bp deletion APC mutation. This mutation predisposes to early onset of FAP, and consideration needs to be given to having molecular testing of at risk members of these families done in childhood. |
| Databáze: | OpenAIRE |
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