A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation

2001 ◽  
Vol 96 (10) ◽  
pp. 3016-3020 ◽  
Author(s):  
Jochen Raedle ◽  
Waltraut Friedl ◽  
Hartmut Engels ◽  
Rainer Koenig ◽  
Joerg Trojan ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Familial Adenomatous Polyposis ◽  
De Novo ◽  
Adenomatous Polyposis ◽  
Mild Mental Retardation ◽  
Dysmorphic Features ◽  
Chromosome 5Q

Familial Adenomatous Polyposis and Mental Retardation Caused by a de novo Chromosomal Deletion at 5q15-q22: Report of a Case

2005 ◽  
Vol 48 (11) ◽  
pp. 2148-2152 ◽  
Author(s):  
Robert Finch ◽  
Harvey G. Moore ◽  
Noralane Lindor ◽  
Syed M. Jalal ◽  
Arnold Markowitz ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Familial Adenomatous Polyposis ◽  
De Novo ◽  
Chromosomal Deletion ◽  
Adenomatous Polyposis

scholarly journals Familial partial trisomy 8p without dysmorphic features and only mild mental retardation

1995 ◽  
Vol 32 (10) ◽  
pp. 792-795 ◽  
Author(s):  
J J M Engelen ◽  
C E M d. Die-Smulders ◽  
J M J Sijstermans ◽  
L E C Meers ◽  
J C M Albrechts ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Partial Trisomy ◽  
Mild Mental Retardation ◽  
Dysmorphic Features

scholarly journals De novo mutations in familial adenomatous polyposis (FAP)

2002 ◽  
Vol 10 (10) ◽  
pp. 631-637 ◽  
Author(s):  
Rasmus Ripa ◽  
Marie Luise Bisgaard ◽  
Steffen Bülow ◽  
Finn Cilius Nielsen
Keyword(s):  
Familial Adenomatous Polyposis ◽  
De Novo ◽  
Adenomatous Polyposis ◽  
De Novo Mutations

scholarly journals Depressed-Type Colonic Lesions and “De Novo” Cancer in Familial Adenomatous Polyposis: A Colonoscopist’s Viewpoint

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Shin-ei Kudo ◽  
Yuusaku Sugihara ◽  
Hiroyuki Kida ◽  
Fumio Ishida ◽  
Hideyuki Miyachi ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Familial Adenomatous Polyposis ◽  
De Novo ◽  
Early Stage ◽  
Colorectal Cancers ◽  
Adenomatous Polyposis ◽  
Depressed Type ◽  
Polyposis Syndrome ◽  
De Novo Cancer ◽  
Almost All

Familial adenomatous polyposis (FAP) is the most common inherited polyposis syndrome. Almost all patients with FAP will develop colorectal cancer if their FAP is not identified and treated at an early stage. Although there are many reports about polypoid lesions and colorectal cancers in FAP patients, little information is available concerning depressed lesions in FAP patients. Several reports suggested that depressed-type lesions are characteristic of FAP and important in the light of their rapid growth and high malignancy. Here, we describe the occurrence of depressed-type lesions in FAP patients treated at our institution. Between April 2001 and March 2010, eight of 18 FAP patients had colorectal cancers. Depressed-type colorectal cancer was found in three patients. It should be kept in mind that depressed-type lesions occur even in FAP.

De novo unbalanced translocation 2;4 characterized by metaphase CGH and array CGH in a child with mental retardation and dysmorphic features

2011 ◽  
Vol 59 (6) ◽  
pp. 309-313
Author(s):  
A. Debost-Legrand ◽  
Y. Capri ◽  
L. Gouas ◽  
C. Pebrel-Richard ◽  
L. Veronese ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Array Cgh ◽  
De Novo ◽  
Unbalanced Translocation ◽  
Dysmorphic Features

scholarly journals Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis

2003 ◽  
Vol 12 (1) ◽  
pp. 52-58 ◽  
Author(s):  
Stefan Aretz ◽  
Siegfried Uhlhaas ◽  
Reiner Caspari ◽  
Elisabeth Mangold ◽  
Constanze Pagenstecher ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
De Novo ◽  
Parental Origin ◽  
Adenomatous Polyposis ◽  
Apc Mutations
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