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Downs syndrom

En person med Downs syndrom har et ekstra kromosom 21, slik at denne personen har tre i stedet for to kromosom 21.

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Del pasientinformasjon

Den ligger åpent tilgjengelig på NHI.no sammen annen relevant informasjon

https://nhi.no/sykdommer/barn/arvelige-og-medfodte-tilstander/down-syndrom/ 

Hva er Downss syndrom?

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Symptomer og tegn

Diagnosen

Behandling

Prognose

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Referanser

Dette dokumentet er basert på det profesjonelle dokumentet Downs syndrom. Referanselisten for dette dokumentet vises nedenfor.

  1. Tsou AY, Bulova P, Capone G, et al. Medical Care of Adults With Down Syndrome: A Clinical Guideline. JAMA 2020; 324: 1543-66. pmid:33079159 PubMed 
  2. Aasen HM, Solberg B, Stangenes KM, Nøhr EA, Eggebø TM. Trisomy 21 - incidence, diagnostics and pregnancy terminations 1999-2018. Tidsskr Nor Laegeforen. 2021 Dec 10;141(18). English, Norwegian. PMID: 34911275.
  3. Stangenes KM et al. Økning i antall svangerskap med Downs syndrom. Folkehelseinstituttet. Publisert 09.11.2021 www.fhi.no 
  4. Neuhäuser M, Krackow S. Adaptive-filtering of trisomy 21: risk of Downs syndrome depends on family size and age of previous child. Naturwissenschaften 2007; 94: 117-21. PubMed 
  5. Giersch ABS. Congenital cytogenetic abnormalities. UpToDate, last updated Sep 27, 2019. UpToDate 
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  13. Shott SR, Joseph A, Heithaus D. Hearing loss in children with Downs syndrome. Int J Pediatr Otorhinolaryngol 2001; 61: 199-205. pmid:11700189 PubMed 
  14. Hithersay R, Startin CM, Hamburg S, et al. Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years. JAMA Neurol 2018. doi:10.1001/jamaneurol.2018.3616 DOI 
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  16. Van Cleve SN, Cannon S, Cohen WI. Part II: clinical practice guidelines for adolescents and young adults with Downs syndrome: 12 to 21 years. J Pediatr Health Care 2006;20:198-205. PubMed 
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  18. RHABU, Regionsenter for habiliteringstjenesten for barn og unge. Retningslinje for oppfølging av barn og unge med Downs syndrom. Feb 2017