WFRF:(Iwarsson Erik)
Sökning: WFRF:(Iwarsson Erik) > Germinal and Somati...
LIBRIS Formathandbok (Information om MARC21)
| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 03898naa a2200457 4500 | |
| 001 | oai:DiVA.org:liu-59495 | |
| 003 | SwePub | |
| 008 | 100917s2010 | |||||||||||000 ||eng| | |
| 009 | oai:prod.swepub.kib.ki.se:121218487 | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-594952 URI |
| 024 | 7 | a https://doi.org/10.2174/1389202107931760562 DOI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1212184872 URI |
| 040 | a (SwePub)liud (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Hultén, Maj Au University of Warwick4 aut |
| 245 | 1 0 | a Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About? |
| 264 | 1 | b Bentham Science Publishers Ltd,c 2010 |
| 338 | a print2 rdacarrier | |
| 520 | a It is well known that varying degrees of mosaicism for Trisomy 21, primarily a combination of normal and Trisomy 21 cells within individual tissues, may exist in the human population. This involves both Trisomy 21 mosaicism occurring in the germ line and Trisomy 21 mosaicism documented in different somatic tissues, or indeed a combination of both in the same subjects. Information on the incidence of Trisomy 21 mosaicism in different tissue samples from people with clinical features of Down syndrome as well as in the general population is, however, still limited. One of the main reasons for this lack of detailed knowledge is the technological problem of its identification, where in particular low grade/cryptic Trisomy 21 mosaicism, i.e. occurring in less than 3-5% of the respective tissues, can only be ascertained by fluorescence in situ hybridization (FISH) methods on large cell populations from the different tissue samples. In this review we summarize current knowledge in this field with special reference to the question on the likely incidence of germinal and somatic Trisomy 21 mosaicism in the general population and its mechanisms of origin. We also highlight the reproductive and clinical implications of this type of aneuploidy mosaicism for individual carriers. We conclude that the risk of begetting a child with Trisomy 21 Down syndrome most likely is related to the incidence of Trisomy 21 cells in the germ line of any carrier parent. The clinical implications for individual carriers may likewise be dependent on the incidence of Trisomy 21 in the relevant somatic tissues. Remarkably, for example, there are indications that Trisomy 21 mosaicism will predispose carriers to conditions such as childhood leukemia and Alzheimers Disease but there is on the other hand a possibility that the risk of solid cancers may be substantially reduced. | |
| 653 | a Trisomy 21 | |
| 653 | a mosaicism | |
| 653 | a germ line | |
| 653 | a fetus | |
| 653 | a childhood leukemia | |
| 653 | a cancer | |
| 653 | a Alzheimers Disease | |
| 653 | a MEDICINE | |
| 653 | a MEDICIN | |
| 700 | 1 | a Jonasson, Jonu Östergötlands Läns Landsting,Linköpings universitet,Molekylär och immunologisk patologi,Hälsouniversitetet,Klinisk patologi och klinisk genetik4 aut0 (Swepub:liu)jonjo59 |
| 700 | 1 | a Nordgren, Annu Karolinska Institutet4 aut |
| 700 | 1 | a Iwarsson, Eriku Karolinska Institutet4 aut |
| 710 | 2 | a University of Warwickb Molekylär och immunologisk patologi4 org |
| 773 | 0 | t CURRENT GENOMICSd : Bentham Science Publishers Ltdg 11:6, s. 409-419q 11:6<409-419x 1389-2029x 1875-5488 |
| 856 | 4 | u http://www.bentham.org/cg/CurrentIssue.htmy Link to journal |
| 856 | 4 | u https://europepmc.org/articles/pmc3018721?pdf=render |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-59495 |
| 856 | 4 8 | u https://doi.org/10.2174/138920210793176056 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:121218487 |
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- Hultén, Maj A
- Jonasson, Jon
- Nordgren, Ann
- Iwarsson, Erik
- Artiklar i publikationen
- CURRENT GENOMICS
- Av lärosätet
- Linköpings universitet
- Karolinska Institutet
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