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undergraduate thesis
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Genetics of Down syndrome
Ema Topalović (2018)
University of Split
University of Split, Faculty of science
Department of Biology
Cite this document...

Topalović, E. (2018). Genetika Down sindroma (Undergraduate thesis). Retrieved from https://urn.nsk.hr/urn:nbn:hr:166:323697

Topalović, Ema. "Genetika Down sindroma." Undergraduate thesis, University of Split, University of Split, Faculty of science, 2018. https://urn.nsk.hr/urn:nbn:hr:166:323697

Topalović, Ema. "Genetika Down sindroma." Undergraduate thesis, University of Split, University of Split, Faculty of science, 2018. https://urn.nsk.hr/urn:nbn:hr:166:323697

Topalović, E. (2018). 'Genetika Down sindroma', Undergraduate thesis, University of Split, University of Split, Faculty of science, accessed 27 March 2019, https://urn.nsk.hr/urn:nbn:hr:166:323697

Topalović E. Genetika Down sindroma [Undergraduate thesis]. Split: University of Split, University of Split, Faculty of science; 2018 [cited 2019 March 27] Available at: https://urn.nsk.hr/urn:nbn:hr:166:323697

E. Topalović, "Genetika Down sindroma", Undergraduate thesis, University of Split, University of Split, Faculty of science, Split, 2018. Available at: https://urn.nsk.hr/urn:nbn:hr:166:323697

Metadata
TitleGenetika Down sindroma
Title (english)Genetics of Down syndrome
AuthorEma Topalović
MentorŽeljana Fredotović (mentor)
Committee memberŽeljana Fredotović (predsjednik povjerenstva)
Committee memberElma Vuko (član povjerenstva)
Committee memberIvica Šamanić (član povjerenstva)
GranterUniversity of Split
University of Split, Faculty of science
(Department of Biology)
Split
Defense date and country2018-09-20, Croatia
Scientific / art field,
discipline and subdiscipline		NATURAL SCIENCES
Biology
Abstract
Kromosom 21 je autosomalni i akrocentrični kromosom čija potpuna ili djelomična aneuploidija izaziva patološke promjene u fenotipu nositelja. Među brojnim vrstama aberacija prevladava standardna trisomija 21, poznata kao Down sindrom. Ovaj poremećaj se javlja kao posljedica duplikacija, delecija i translokacija u genomu ili kao rezultat prisustva velikog broja stanica s mozaičnom trisomijom u tijelu oboljele osobe. Za detekciju standardne trisomije 21 i strukturnih aberacija ovog kromosoma upotrebljavaju se brojne citogenetičke i molekularnogenetičke metode kao što su MLPA (metoda istovremenog umnažanja vezanih proba), FISH (fluorescentna in-situ hibridizacija) te molekularno kariotipiziranje. Osim jednostruke trisomije 21 uočene su i kombinacije s trisomijama autosoma i spolnih kromosoma. Zajedničko za sve navedene aberacije je trudnoća u starijoj dobi kada je veća vjerojatnost pojave defekta u razdvajanju kromosoma.
Abstract (english)
Chromosome 21 is autosomal and acrocentric chromosome whose full or partial aneuploidy causes pathological changes in the carrier phenotype. Among the many types of aberrations, dominate standard trisomy 21, known as Down syndrome. This disorder also occurs as a result of duplication, deletion and translocation in the genome or as a result of the presence of a large number of cells with mosaic trisomy in the body of the affected person. Numerous cytogenetic and molecular-genetic methods such as MLPA (Factor-Related Probing Method), FISH (Fluorescent in-situ Hybridization) and molecular caryotyping are used to detect standard trisomies and structural aberrations of this chromosome. In addition to the single trisomy 21, combinations of the autosomal and sex chromosomes trisomies are also possible.The most important risk factor for trisomy disorders is advanced maternal age when chromosomal abnormalities are more likely to occur.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:166:323697
Study programmeTitle: Biologija i kemija
Study programme type: sveučilišni
Study level: preddiplomski
Academic / professional title: sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) biologije i kemije (sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) biologije i kemije)
Type of resourcetext
File originBorn digital
Access conditionsRestricted access
Terms of usehttp://rightsstatements.org/vocab/InC/1.0/
Created on2018-10-29 15:48:36