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master's thesis
Rekurentni mikrodelelecijski sindromi
2022. urn:nbn:hr:184:032342
Lipošćak, Katja
University of Rijeka
Faculty of Medicine
Department of Biology and Medical Genetics

Cite this document

Lipošćak, K. (2022). Rekurentni mikrodelelecijski sindromi (Master's thesis). Rijeka: University of Rijeka, Faculty of Medicine. Retrieved from https://urn.nsk.hr/urn:nbn:hr:184:032342

Lipošćak, Katja. "Rekurentni mikrodelelecijski sindromi." Master's thesis, University of Rijeka, Faculty of Medicine, 2022. https://urn.nsk.hr/urn:nbn:hr:184:032342

Lipošćak, Katja. "Rekurentni mikrodelelecijski sindromi." Master's thesis, University of Rijeka, Faculty of Medicine, 2022. https://urn.nsk.hr/urn:nbn:hr:184:032342

Lipošćak, K. (2022). 'Rekurentni mikrodelelecijski sindromi', Master's thesis, University of Rijeka, Faculty of Medicine, accessed 04 December 2024, https://urn.nsk.hr/urn:nbn:hr:184:032342

Lipošćak K. Rekurentni mikrodelelecijski sindromi [Master's thesis]. Rijeka: University of Rijeka, Faculty of Medicine; 2022 [cited 2024 December 04] Available at: https://urn.nsk.hr/urn:nbn:hr:184:032342

K. Lipošćak, "Rekurentni mikrodelelecijski sindromi", Master's thesis, University of Rijeka, Faculty of Medicine, Rijeka, 2022. Available at: https://urn.nsk.hr/urn:nbn:hr:184:032342

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Metadata
TitleRekurentni mikrodelelecijski sindromi
Title (english)Recurrent microdeletion syndromes
AuthorKatja Lipošćak
MentorNina Pereza (mentor)
Committee memberSaša Ostojić (predsjednik povjerenstva)
Committee memberSanja Dević Pavlić (član povjerenstva)
Committee memberSmiljana Ristić (član povjerenstva)
Committee memberNina Pereza (član povjerenstva)
GranterUniversity of Rijeka
Faculty of Medicine
(Department of Biology and Medical Genetics)
Rijeka
Defense date and country2022-07-07, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Human Genetics, Genomics and Proteomics
Abstract
Delecije i duplikacije najčešće su strukturne varijacije genoma čovjeka te se zajedno nazivaju varijacije broja kopija (engl. copy number variation, CNV). CNV se definira kao dodatak ili gubitak dijela DNK u usporedbi s referentnim humanim genomom. Veličina im varira od 1.000 parova baza do nekoliko milijuna parova baza. Rekurentni mikrodelecijski sindromi nastaju promjenama u količini ukupne DNK-a uvijek na istom mjestu u genomu te dovode do prepoznatljivih fenotipova s dobro definiranom korelacijom genotip-fenotip. Nastaju malim delecijama koje iznose manje od 5 Mb dijelova kromosoma te se ne mogu detektirati kariotipizacijom. Ovisno o vrsti rekurentnog mikrodelecijskog sindroma, pacijenti najčešće imaju intelektualno zaostajanje i moguća obilježja poremećaja autističnog spektra, izrazite značajke ponašanja, poremećaje spavanja te kraniofacijalne i skeletne dismorfije. Genomski poremećaji se istražuju i otkrivaju metodom komparativne genomske hibridizacije na mikročipu te se dodatno mogu potvrditi neovisnom metodom kao što je FISH, MLPA ili kvantitativni PCR.
Abstract (english)
Deletions and duplications are the most common structural variations of the human genome and referred to as copy number variations (CNV). CNV is defined as the addition or loss of DNA amount compared to the reference human genome. Their size varies from 1.000 base pairs to several million base pairs. Recurrent microdeletion syndromes are caused by changes in the amount of total DNA always at the same place in the genome and lead to recognizable phenotypes with a well-defined genotype-phenotype correlation. They are formed by small deletions that are less than 5 Mb of chromosome parts and can not be detected by karyotyping. Depending on the type of recurrent microdeletion syndrome, patients most often have intellectual retardation and possible features of autism spectrum disorders, mood or sleep disorders and craniofacial or skeletal dysmorphia. Genomic disorders are investigated and detected by the method of comparative genomic hybridization on a microchip and can be further confirmed by an independent method such as FISH, MLPA or quantitative PCR.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:184:032342
Study programmeTitle: Medicine
Study programme type: university
Study level: integrated undergraduate and graduate
Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
Type of resourceOther
File originBorn digital
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2022-07-07 07:07:46