Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study
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 m...
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| Published in | Journal of medical genetics Vol. 33; no. 2; pp. 157 - 160 |
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| Main Authors | , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
London
BMJ Publishing Group Ltd
01.02.1996
BMJ BMJ Publishing Group LTD |
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| Abstract | 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. |
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| AbstractList | 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. |
| Author | Forrest, S M Somers, G R Young, M A Nasioulas, S Cameron, D J Distante, S Gardner, R J |
| AuthorAffiliation | The Murdoch Institute, Royal Children's Hospital, Melbourne, Australia |
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| Cites_doi | 10.1016/0016-5085(93)90265-E 10.1016/0092-8674(81)90021-0 10.1016/0002-9610(51)90188-2 10.1111/j.1469-1809.1994.tb00730.x 10.1007/BF02587664 10.1093/hmg/2.10.1719 10.1007/BF00341240 10.1038/328614a0 10.1136/adc.66.8.971 10.1126/science.1651563 10.1016/S0140-6736(94)92634-4 10.1016/0092-8674(93)90538-2 10.1002/1097-0142(19910815)68:4<889::AID-CNCR2820680435>3.0.CO;2-0 10.1136/jmg.31.11.888 10.1073/pnas.89.10.4452 10.1093/hmg/3.1.53 10.1007/BF02555389 10.1016/0888-7543(92)90032-N 10.1016/S0140-6736(95)90152-3 10.1056/NEJM199503303321302 10.1126/science.3479843 10.1016/0140-6736(92)92169-G 10.1006/geno.1994.1119 10.1002/ajmg.1320570423 10.1093/hmg/4.3.337 10.1093/hmg/3.1.181 |
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| Snippet | 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.... |
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| SubjectTerms | Adenomatous Polyposis Coli - diagnosis Adult Age of Onset Aged Biological and medical sciences Child Child, Preschool Codon - genetics Colectomy DNA Mutational Analysis Female Gastroenterology. Liver. Pancreas. Abdomen Gastrointestinal Hemorrhage - diagnosis Gastrointestinal Hemorrhage - etiology Genes, APC Humans Male Medical sciences Middle Aged Stomach. Duodenum. Small intestine. Colon. Rectum. Anus Tumors |
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| Title | Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study |
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