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  • 1 Debreceni Egyetem Orvos- és Egészségtudományi Centrum Gyermekgyógyászati Intézet, Klinikai Genetikai Központ Debrecen Nagyerdei krt. 98. 4032
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A kromoszómák szubtelomerikus régiói génben gazdag területek, átrendeződésük hagyományos kromoszómaanalízissel nem detektálható. Mivel a mentális retardációk közel 7%-áért felelősek, kimutatásuk diagnosztikai szempontból jelentős, és lehetőséget nyújt az ismétlődés megakadályozására is. A kimutatásukra alkalmas módszerek egyike a szubtelomerikus fluoreszcencia in situ hibridizáció. Ötvenkilenc idiopathiás mentálisan retardált beteg közül 35 közepes/súlyos értelmi fogyatékost választottunk ki a nemzetközi irodalomban ajánlott kritériumok alapján. Közülük 6 beteg esetében mutattunk ki szubtelomerikus aberrációt, 5 familiáris (két család), egy de novo esetnek bizonyult. Huszonkilenc betegben szubtelomerikus kromoszómaátrendeződést nem igazoltunk. A 6 beteg közül kettőben 8pter deléciót és 12pter duplikációt, háromban 21qter deléciót és 10pter duplikációt azonosítottunk kiegyensúlyozatlan transzlokáció formájában. Egy betegnél de novo keletkezett 3qter deléciót detektáltunk. Az eltérések eredetének tisztázása során 12 egészséges családtag közül öt bizonyult kiegyensúlyozott transzlokációhordozónak. Az irodalmi adatokkal összhangban megállapítottuk, hogy a fenotípust a deléció és a duplikáció mérete, valamint transzlokációk esetén az érintett partner kromoszómák együttesen határozzák meg.

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