Title Raznolikost fenotipskih karakteristika mikrodelecijskog sindroma 17q12 Title (english) The variety of phenotypic characteristics in Microdeletion syndrome 17q12 Author Marta Čuljak Mentor Ivana Vuković Brinar (mentor)Committee member Bojan Jelaković (predsjednik povjerenstva)Committee member Jasenka Markeljević (član povjerenstva)Committee member Ivana Vuković Brinar (član povjerenstva)Granter University of Zagreb Defense date and country 2020-07-17, Croatia Scientific / art field, BIOMEDICINE AND HEALTHCARE Abstract Kromosomske anomalije jesu odstupanja u broju ili strukturi kromosoma te bolesti i anomalije kojima su one uzrok. Razlikuju se tako numeričke u kojima dolazi do promjene broja kromosoma (aneuplodija) i strukturne u kojima je jedan dio kromosoma zamijenjen drugim dijelom, premješten na drugi kromosom, umnožen ili potpuno izgubljen. Uzrok zašto nastaju kromosomske anomalije ostaje neistražen, ali veliku ulogu u njihovom razvoju ima naslijeđe. Primjer strukturne kromosomske anomalije su mikrodelecijski sindromi nastali delecijom malog dijela kromosoma, a mutacija može zahvaćati različite organe te se očitovati različitim simptomima i obilježjima ovisno o tome koje gene obuhvati delecija. Primjer takvog sindroma je i mikrodelecijski sindrom 17q12 nedavno otkriven i tek odnedavno istraživan sindrom nastao delecijom dugog kraka 17. kromosoma na poziciji 12. Pored poteškoća u razvoju kao jednog od glavnih obilježja mikrodelecijskog sindroma 17q12, ciste bubrega, druge anomalije bubrega, dijabetes, anomalije gušterače najčešći su nalaz u oboljelih osoba. Međutim, uočava se pojava izrazito raznolikog spektra simptoma, a podloga u nastanku određene simptomatologije povezuje se sa zahvaćanjem više od 15 gena među
kojima najvažniju ulogu imaju HNF1ß i LHX1 geni. Premda se mutacija može naslijediti autosomno dominatno, velik broj slučajeva nastaje de novo, a u oba oblika vidljiva je velika raznolikost fenotipskih karakteristika među oboljelima, čak i onima koji su u srodstvu. Upravo ta raznolikost pokazala se zanimljiva liječnicima koji prikazuju niz potpuno različitih slučajeva mikrodelecijskog sindroma 17q12, odnosno na koji način se sve može očitovati od osobe do osobe. Važnost u zamjećivanju raznolikosti leži u važnosti praćenja i liječenja zahvaćenih pacijenata, te pojavi dosad relativno nepoznatog tipa pacijenata u liječničkim ordinacijama. Cilj ovog preglednog rada bio je stoga prikazati moguće fenotipske karakteristike i njihove kombinacije
u osoba s mikrodelecijskim sindromom 17q12.
Abstract (english) Chromosomal abnormalities are deviations in the number or structure of chromosomes and the diseases and anomalies that cause them. There are numerical ones in which there is a change in the number of chromosomes (aneuploidy) and structural ones in which a part of a chromosome is replaced, moved to another place, multiplied or completely lost. The cause of chromosomal abnormalities remains unexplored, but heredity plays a major role in their development. An example of a structural chromosomal anomaly are microdeletion syndromes caused by the deletion of a small part of a chromosome. The mutation can affect different organs and manifest different symptoms and characteristics depending on which genes the deletion encompasses. One example of such a syndrome is the microdeletion syndrome 17q12, a recently discovered and only recently researched syndrome caused by a deletion of the long arm of the 17th chromosome at position 12. In addition to developmental difficulties as one of the main features of microdeletion syndrome 17q12, renal cysts, other renal
anomalies, diabetes, pancreatic anomalies are the most common findings in patients. However, the appearance of a very diverse spectrum of symptoms is observed, and the background in the development of certain symptoms is associated with the involvement of more than 15 genes, among which the most important role is played by HNF1ß and LHX1 genes. Although the mutation can be inherited autosomally dominantly, a large number of cases arise de novo, and in both forms, a great variety of phenotypic characteristics is seen among patients, even those who are related. It is precisely this diversity that has proved interesting to physicians who present some completely different cases of 17q12 microdeletion syndrome, that is, how everything can be manifested from person to person. The importance of noticing diversity lies in the importance of monitoring and treating affected patients and the appearance of relatively unknown types of patients. The aim of this review was, therefore, to summarize in one place the possible phenotypic characteristics and their combinations in
persons with microdeletion syndrome 17q12.
Keywords
kromosomske anomalije
mikrodelecijski sindrom 17q12
anomalije bubrega
dijabetes
poteškoće u razvoju
Keywords (english)
chromosomal abnormalities
microdeletion syndrome 17q12
renal abnormalities
diabetes
developmental difficulties
Language croatian URN:NBN urn:nbn:hr:105:507338 Study programme Title: Medicine Type of resource Text File origin Born digital Access conditions Open access Terms of use Created on 2021-03-17 10:06:35
