Letters to the editor
Deletion and duplication of the adenomatous polyposis coli gene resulting from an interchromosomal insertion involving 5(q22q23.3) in the father
| The first 150 words of the full text of this article appear below. |
EDITOR
Chromosomal rearrangements occur at
a low frequency in the general population and chromosomal insertions
occur at an estimated frequency of 1 in 5000 newborn
infants.1 Adjacent segregation of interchromosomal
insertions results in a deletion or duplication of the inserted segment
or more complicated imbalances through a recombination event at
meiosis. In the case presented here, a balanced interchromosomal
insertion between chromosomes 5 and 10, 46,XY,dir
ins(10;5)(q25;q22q23.3), was carried by the father. Theoretically this
insertion involves less than 1% of the haploid autosomal length and
therefore a fetus with either a duplication or deletion is likely to be
viable unless there are essential genes in this segment that are
deleterious in an aneuploid conceptus. Generally deletions are more
deleterious than duplications and there are few published cases where
the clinical features of a duplication and deletion for the same
chromosomal region have been described within the same
family.2 3
In this paper we report
CiteULike 
Complore 
Connotea 
Del.icio.us 
Digg 
Reddit 
Technorati What's this?
This article has been cited by other articles:
-
Aretz, S, Stienen, D, Uhlhaas, S, Pagenstecher, C, Mangold, E, Caspari, R, Propping, P, Friedl, W
(2005). Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis. J. Med. Genet.
42: 185-192
[Full Text]
- Full Text
- Full Text (PDF)
- Submit a response
- Alert me when this article is cited
- Alert me when eLetters are posted
- Alert me if a correction is posted
- Citation Map
Services
- Email this link to a friend
- Similar articles in this journal
- Similar articles in PubMed
- Add article to my folders
- Download to citation manager
- Request Permissions
Citing Articles
Google Scholar
PubMed
Bookmark with
Register for free content
The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.
Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.
