Abstract:
:Two cases are reported of patients with deletions of chromosome 5q. Both have familial adenomatous polyposis (FAP) and mild mental retardation. In both, macroscopic polyposis was confined to the proximal colon in adult life (in their thirties) although microscopic adenomatosis was shown in the more distal colon with occasional single polyps. Both subjects had dermoid cysts, and congenital hypertrophy of the retinal pigment epithelium (CHRPE) was seen in case 2. Case 1 has gastroduodenal polyps and desmoid tumours; case 2 has a marfanoid habitus with an abnormal pectus, wasted calf muscles and clawing of the toes, and Caroli's syndrome. His deletion is cytogenetically more extensive than that in case 1. The paucity of adenomas in the left side of the colon suggests that FAP cannot always confidently be excluded by sigmoidoscopy alone. The expression of the disease in the colon in these cases could be milder than in the more usual autosomal dominant cases where nonsense mutations resulting from single base changes of small deletions rather than deletion of the whole gene are the usual finding.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Hodgson SV,Coonar AS,Hanson PJ,Cottrell S,Scriven PN,Jones T,Hawley PR,Wilkinson MLdoi
10.1136/jmg.30.5.369subject
Has Abstractpub_date
1993-05-01 00:00:00pages
369-75issue
5eissn
0022-2593issn
1468-6244journal_volume
30pub_type
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