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001-es BibID:	BIBFORM065210
Első szerző:	Nagy Bálint (molekuláris genetikus)
Cím:	Detection of sex chromosome aneuploidies using quantitative fluorescent PCR in the Hungarian population / Balint Nagy, Richard Gyula Nagy, Levente Lazar, Julianna Schonleber, Csaba Papp, Janos Rigo Jr.
Dátum:	2015
ISSN:	0009-8981
Megjegyzések:	Aneuploidies are the most frequent chromosomal abnormalities at birth. Autosomal aneuploidies cause serious malformations like trisomy 21, trisomy 18 and trisomy 13. However sex chromosome aneuploidies are causing less severe syndromes. For the detection of these aneuploidies, the "gold standard" method is the cytogenetic analysis of fetal cells, karyograms show all numerical and structural abnormalities, but it takes 2?4 weeks to get the reports. Molecular biological methods were developed to overcome the long culture time, thus, FISH and quantitative fluorescent PCR were introduced. In this work we show our experience with a commercial kit for the detection of sex chromosome aneuploidies.MethodsWe analyzed 20.173 amniotic fluid samples for the period of 2006?2013 in our department. A conventional cytogenetic analysis was performed on the samples. We checked the reliability of quantitative fluorescent PCR and DNA fragment analysis on those samples where sex chromosomal aneuploidy was diagnosed.ResultsFrom the 20.173 amniotic fluid samples we found 50 samples with sex chromosome aneuploidy. There were 19 samples showing 46, XO, 17 samples with 46, XXY, 9 samples with 47, XXX and 5 samples with 47, XYY karyotypes. The applied quantitative fluorescent PCR and DNA fragment analyses method are suitable to detect all abnormal sex chromosome aneuploidies.ConclusionsQuantitative fluorescent PCR is a fast and reliable method for detection of sex chromosome aneuploidies.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Aneuploidia sex chromosomes Detection fluorescent PCR
Megjelenés:	Clinica Chimica Acta 445 (2015), p. 2-6. -
További szerzők:	Nagy Richárd Gyula Lázár Levente (szülész-nőgyógyász) Schönléber Julianna (patológus) Papp Csaba (szülész-nőgyógyász) Rigó János (1958-) (szülész-nőgyógyász)
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
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