" MLPA" . . . "mental retardation; FISH methods; MLPA; microarray methods; subtelomeric rearrangements; marker chromosomes; dysmorphy; geentics counselling"@en . . " FISH methods" . "The major result of the project is definition of an algorithm of exploring current methods of clinical genetics and syndromology for clarifying causes of PMR in individual patients."@en . "NR9457" . . . . . "2009-12-31+01:00"^^ . . "http://www.isvav.cz/projectDetail.do?rowId=NR9457"^^ . . "Pou\u017Eit\u00ED metod FISH s lokus specifick\u00FDmi sondami, mFISH, microarray CGH a MLPA v diagnostice idiopatick\u00FDch ment\u00E1ln\u00EDch retardac\u00ED a autismu s ment\u00E1ln\u00ED retardac\u00ED. Vypracov\u00E1n\u00ED algoritmu v\u00FDb\u011Bru pacient\u016F pro vy\u0161et\u0159en\u00ED molekul\u00E1rn\u011B cytogenetick\u00FDmi a dal\u0161\u00EDmi metodami dle dysmorfick\u00FDch charakteristik. Detekce subtelorick\u00FDch p\u0159estaveb, mikrodelec\u00ED, specifikace nadpo\u010Detn\u00FDch marker chromosom\u016F. Zp\u0159esn\u011Bn\u00ED rozsahu chromosom\u00E1ln\u00EDch aberac\u00ED a pozic zlom\u016F s c\u00EDlem uk\u00E1zat na nezn\u00E1m\u00E9 kauz\u00E1ln\u00ED geny nebo na mo\u017Enost mezigenera\u010Dn\u00EDho zm\u011Bnu aberace." . " subtelomeric rearrangements" . "The use of FISH with locus-specific probes, mFISH, microarray CGH and MLPA in the diagnostics of idiopathic mental retardations and autism with mental retardation. Elaboration of an algorithm for patient selection for the analysis by molecular cytogenetic and other methods according to dysmorphic traits. Detection of subtelomeric rearrangements, microdeletions, specification of supranumerary marker chromosomes. Detailed mapping of the extent of chromosomal aberrations and breakpoint location with the aim to point to unknown causal genes or to the possibility of a change of the aberration between generations."@en . "Optimalizace molekul\u00E1rn\u011B cytogenetick\u00E9 a molekul\u00E1rn\u011B genetick\u00E9 diagnostiky chromosom\u00E1ln\u00EDch zm\u011Bn u pacient\u016F s ment\u00E1ln\u00ED retardac\u00ED" . "8"^^ . "mental retardation" . . "8"^^ . . . . "Optimising molecular cytogenetic and molecular genetic diagnostics of chromosomal aberrations in patients with mental retardation"@en . " marker chromosomes" . . " dysmorphy" . "0"^^ . . "2007-01-01+01:00"^^ . "1"^^ . "1"^^ . . . . "V\u00FDsledkem projektu je n\u00E1vrh algoritmu \u00FA\u010Deln\u00E9ho vyu\u017Eit\u00ED st\u00E1vaj\u00EDc\u00EDch metod klinick\u00E9 genetiky a syndromologie, kter\u00FD umo\u017En\u00ED objasn\u011Bn\u00ED PMR u jednotliv\u00FDch proband\u016F."@cs . "2011-04-27+02:00"^^ . "2009-12-18+01:00"^^ . " microarray methods" .