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Title:Kromosomske nepravilnosti pri neplodnosti
Authors:ID Smogavec, Mateja (Author)
ID Zagorac, Andreja (Author)
ID Kokalj-Vokač, Nadja (Author)
Files:.pdf Zdravniski_vestnik_2009_Smogavec,_Zagorac,_Vokac_KROMOSOMSKE_NEPRAVILNOSTI_PRI_NEPLODNOSTI.pdf (106,88 KB)
MD5: BCD9D86860FC15E9EE0AB6DE7B76AFAB
 
URL http://vestnik.szd.si/index.php/ZdravVest/article/view/368
 
Language:Slovenian
Work type:Scientific work
Typology:1.01 - Original Scientific Article
Organization:MF - Faculty of Medicine
Abstract:Izhodišča: Analiza podatkov o citogenetskih nepravilnostih, ki so se v Laboratoriju za medicinsko genetiko Univerzitetnega kliničnega centra Maribor izkazale kot vzrok neplodnosti pri parih, ženskah in moških posameznikih ter primerjava dobljenih rezultatov s podatki iz literature, služi za nadaljnje razumevanje in ustreznost napotitve neplodnih oseb na citogenetske analize. Metode: Analizirani so bili podatki kariotipov oseb, ki so bile zaradi neplodnosti obravnavane od januarja 2000 do septembra 2008 v Laboratoriju za medicinsko genetiko Univerzitetnega kliničnega centra Maribor. Proučevana populacija 750 oseb je bila razdeljena na pare (290 parov), na posameznice ženskega (20) in moškega (150) spola. Pri vseh je bila narejena rutinska kromosomska analiza 30 metafaznih celic iz celične kulture periferne krvi s tehnikami proganja GTG, RGH in/ali RBG. Rezultati: V proučevani skupini 750 preiskovancev je imelo 87 (11,6 %) oseb kromosomske nepravilnosti. Od teh je bilo ugotovljenih pri moških 6,8 % kromosomskih nepravilnosti in 4,8 % pri ženskah. Odstotek kromosomskih nepravilnosti proučevanih parov, 8,8 %, je primerljiv s podatki iz literature. Zaključki: Kromosomska analiza je pomemben del preiskav neplodnosti, saj, kot se je izkazalo v naši raziskavi, je pojavnost kromosomskih nepravilnosti v proučevani skupini večja kot v splošni populaciji. Uravnotežene kromosomske preureditve so najpogostejši razlog za spontane splave in prizadetost potomcev pri parih. Anevploidije spolnih kromosomov pa so najpogostejši razlog za neplodnost v ožjem pomenu pri moških in ženskah posameznicah. Pomanjkljivost v citogenetski obravnavi naših preiskovancev na področju neplodnosti je, da se neplodnost mnogokrat ne obravnava celostno - v parih, temveč se na kariotipizacijo napotijo posamezniki z domnevo, da drugi partner ni nosilec kromosomske spremembe.
Keywords:kariotipizacija, kromosomske spremembe, azoospermija, spontani splav, amenoreja
Publication status:Published
Publication version:Version of Record
Year of publishing:2009
Number of pages:str. 393-398
Numbering:Letn. 78, št. 8
PID:20.500.12556/DKUM-52456 New window
ISSN:1318-0347
UDC:576.316
ISSN on article:1318-0347
COBISS.SI-ID:3394367 New window
NUK URN:URN:SI:UM:DK:1TIRRYEN
Publication date in DKUM:10.07.2015
Views:2768
Downloads:223
Metadata:XML DC-XML DC-RDF
Categories:Misc.
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Record is a part of a journal

Title:Zdravniški vestnik. glasilo Slovenskega zdravniškega društva
Publisher:Slovensko zdravniško društvo
ISSN:1318-0347
COBISS.SI-ID:32893696 New window

Licences

License:CC BY-NC 4.0, Creative Commons Attribution-NonCommercial 4.0 International
Link:http://creativecommons.org/licenses/by-nc/4.0/
Description:A creative commons license that bans commercial use, but the users don’t have to license their derivative works on the same terms.
Licensing start date:10.07.2015

Secondary language

Language:English
Title:Chromosome abnormalities in infertility
Abstract:Background: The aim of the current study was to find out the importance of chromosomal abnormalities in infertile patients, who were sent to Laboratory of medical genetics, University Clinical Centre Maribor, Maribor for kariotyping. The obtained results and the review of the literature are helpful in understanding the importance of cytogenetics analysis in infertility. Methods: The cytogenetic data of infertility were collected from January 2000 to September 2008. The examined population of 750 people was divided in 290 infertile couples, infertile females (20) and infertile males (150). In all, a routine cytogenetics analysis from peripheral blood was made. 30 metaphase cells using GTG, RHG and/or RBG banding were analysed. Results: Chromosomal abnormalities were found in 87 people (11.6 %; 6.8 % in men and 4.8 % in women). The percentage of chromosomal abnormalities in the studied population (8.8 %) correlates with the data in the literature. Conclusions: Chromosomal analysis is an important method in diagnostic procedures of infertility, because chromosomal abnormalities could play the important role in etiology of infertility and are more frequently detected in this group of patients compared to general population. In the infertile couples balanced chromosomal abnormalities are the main cause of spontaneous abortions. Sex chromosome aneuploidies are highly correlated to infertility of females and males.
Keywords:karyotypization, chromosome abnormalities, azoospermia, spontaneous abortion, amenorrhoea


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