"benign chromosomal imbalances; mosaicism; supernumerary marker chromosome"@en . "p\u0159edn\u00E1\u0161ka: 47. cytogenetick\u00E1 konference 2014 Marker-chromozom (SMC) je pom\u011Brn\u011B vz\u00E1cn\u00E1 chromozomov\u00E1 abnormalita se \u0161irok\u00FDm spektrem mo\u017En\u00FDch projev\u016F. A\u010Dkoliv v\u011Bt\u0161ina nosi\u010D\u016F je zdr\u00E1va, n\u011Bkter\u00E9 SMC mohou b\u00FDt spojeny s poruchami plodnosti (zejm\u00E9na u mu\u017E\u016F), pop\u0159. s ment\u00E1ln\u00EDm posti\u017Een\u00EDm a/nebo r\u016Fzn\u00FDmi vrozen\u00FDmi vadami. Genetick\u00E9 poradenstv\u00ED p\u0159i prenat\u00E1ln\u00EDm z\u00E1chytu SMC je zvl\u00E1\u0161t\u011B n\u00E1ro\u010Dn\u00E9, jeliko\u017E progn\u00F3za velmi z\u00E1vis\u00ED na chromozomov\u00E9m p\u016Fvodu SMC a na p\u0159\u00EDtomnosti specifick\u00FDch segment\u016F. Proto je ka\u017Ed\u00FD nov\u011B publikovan\u00FD p\u0159\u00EDpad cenn\u00FD pro poradenstv\u00ED a m\u016F\u017Ee poskytnout i d\u016Fle\u017Eitou informaci pro reproduk\u010Dn\u00ED rozhodov\u00E1n\u00ED rodi\u010D\u016F. Prezentujeme p\u0159\u00EDpad 33let\u00E9 zdrav\u00E9 \u017Eeny, kter\u00E1 byla konzultov\u00E1na jako matka d\u00EDt\u011Bte s %22connexinovou%22 hluchotou, tedy p\u0159ena\u0161e\u010Dka mutace v GJB2. P\u0159i z\u00E1kladn\u00EDm cytogenetick\u00E9m vy\u0161et\u0159en\u00ED byl v jej\u00EDch lymfocytech odhalen nadpo\u010Detn\u00FD marker-chromozom. Anal\u00FDza FISH identifikovala dva r\u016Fzn\u00E9 SMC v mozaice. Prok\u00E1zala, \u017Ee po\u010Detn\u011Bj\u0161\u00ED SMC, nach\u00E1zej\u00EDc\u00ED se v 31 % bun\u011Bk, je der(7), kter\u00FD obsahuje Williams-Beurenovskou oblast (WBSCR9+). Dosud bylo publikov\u00E1no 8 p\u0159\u00EDpad\u016F s obdobn\u00FDm rozsahem SMC (zahrnuj\u00EDc\u00ED 7q11.23), ale u v\u0161ech byla popisov\u00E1na PMR a faci\u00E1ln\u00ED dysmorfie, event. poruchy chov\u00E1n\u00ED. Tyto klinick\u00E9 projevy jsme u vy\u0161et\u0159ovan\u00E9 \u017Eeny nepozorovali. Vedle tohoto v\u011Bt\u0161\u00EDho SMC jsme d\u00E1le nalezli druh\u00FD, men\u0161\u00ED SMC, kter\u00FD nebylo mo\u017En\u00E9 pro jeho n\u00EDzkou frekvenci a mal\u00FD rozsah bl\u00ED\u017Ee identifikovat. Je pravd\u011Bpodobn\u00E9, \u017Ee \u0161lo o \u00FAsek tvo\u0159en\u00FD v\u00FDhradn\u011B konstitutivn\u00EDm heterochromatinem." . . "12538" . . . "4"^^ . . . "4"^^ . "Dva marker-chromozomy u jedn\u00E9 zdrav\u00E9 \u017Eeny - kazuistika"@cs . . "[70BB0B711C96]" . . . "11130" . "Dr\u00E1bov\u00E1, Jana" . "Dva marker-chromozomy u jedn\u00E9 zdrav\u00E9 \u017Eeny - kazuistika" . "Two supernumerary marker-chromosomes in a healthy woman - a case report"@en . "Dva marker-chromozomy u jedn\u00E9 zdrav\u00E9 \u017Eeny - kazuistika"@cs . "Ko\u010D\u00E1rek, Eduard" . "P(TA01010931), S" . . "Tesner, Pavel" . "RIV/00216208:11130/14:10286370" . . . . "Dva marker-chromozomy u jedn\u00E9 zdrav\u00E9 \u017Eeny - kazuistika" . . . "Pourov\u00E1, Radka" . . . "lecture: 47th cytogenetic conference 2014 Presence of supernumerary marker chromosome (SMC) is a rare chromosomal abnormality with broad-spectrum of possible clinical consequences. Most carriers are healthy people, but some SMCs could be associated with infertility, especially in males. They are also more frequent in intellectual disability and cases with various congenital defects. Genetic counselling in cases of prenatal detection of SMCs is rather challenging since prognosis differs widely depending on the SMC chromosomal origin and presence of specific segments. Thus, every new published case is valuable for decision-making. Here, we report a case of the 33-year-old healthy woman referred to clinical geneticist as parent of the deaf child. She was cytogenetically examined due to chromosomal aberration in the pregnancy of her mother. In her peripheral blood lymphocytes two SMCs in a mosaic form were detected by various FISH methods. Our analysis revealed that the first SMC is derivative chromosome 7 containing Williams-Beuren region (7q11.23) which belongs to considered dosage-sensitive area of this chromosome but was clinically silent. Besides the larger SMC we also recognized a smaller SMC, where due to its low frequency and size it was impossible to determine its origin (likely from constitutive heterochromatin). Our observations are compared with similar case reports."@en . "http://www.slg.cz/2014/47-cytogeneticka-konference/program" . "Two supernumerary marker-chromosomes in a healthy woman - a case report"@en . . . "p\u0159edn\u00E1\u0161ka: 47. cytogenetick\u00E1 konference 2014 Marker-chromozom (SMC) je pom\u011Brn\u011B vz\u00E1cn\u00E1 chromozomov\u00E1 abnormalita se \u0161irok\u00FDm spektrem mo\u017En\u00FDch projev\u016F. A\u010Dkoliv v\u011Bt\u0161ina nosi\u010D\u016F je zdr\u00E1va, n\u011Bkter\u00E9 SMC mohou b\u00FDt spojeny s poruchami plodnosti (zejm\u00E9na u mu\u017E\u016F), pop\u0159. s ment\u00E1ln\u00EDm posti\u017Een\u00EDm a/nebo r\u016Fzn\u00FDmi vrozen\u00FDmi vadami. Genetick\u00E9 poradenstv\u00ED p\u0159i prenat\u00E1ln\u00EDm z\u00E1chytu SMC je zvl\u00E1\u0161t\u011B n\u00E1ro\u010Dn\u00E9, jeliko\u017E progn\u00F3za velmi z\u00E1vis\u00ED na chromozomov\u00E9m p\u016Fvodu SMC a na p\u0159\u00EDtomnosti specifick\u00FDch segment\u016F. Proto je ka\u017Ed\u00FD nov\u011B publikovan\u00FD p\u0159\u00EDpad cenn\u00FD pro poradenstv\u00ED a m\u016F\u017Ee poskytnout i d\u016Fle\u017Eitou informaci pro reproduk\u010Dn\u00ED rozhodov\u00E1n\u00ED rodi\u010D\u016F. Prezentujeme p\u0159\u00EDpad 33let\u00E9 zdrav\u00E9 \u017Eeny, kter\u00E1 byla konzultov\u00E1na jako matka d\u00EDt\u011Bte s %22connexinovou%22 hluchotou, tedy p\u0159ena\u0161e\u010Dka mutace v GJB2. P\u0159i z\u00E1kladn\u00EDm cytogenetick\u00E9m vy\u0161et\u0159en\u00ED byl v jej\u00EDch lymfocytech odhalen nadpo\u010Detn\u00FD marker-chromozom. Anal\u00FDza FISH identifikovala dva r\u016Fzn\u00E9 SMC v mozaice. Prok\u00E1zala, \u017Ee po\u010Detn\u011Bj\u0161\u00ED SMC, nach\u00E1zej\u00EDc\u00ED se v 31 % bun\u011Bk, je der(7), kter\u00FD obsahuje Williams-Beurenovskou oblast (WBSCR9+). Dosud bylo publikov\u00E1no 8 p\u0159\u00EDpad\u016F s obdobn\u00FDm rozsahem SMC (zahrnuj\u00EDc\u00ED 7q11.23), ale u v\u0161ech byla popisov\u00E1na PMR a faci\u00E1ln\u00ED dysmorfie, event. poruchy chov\u00E1n\u00ED. Tyto klinick\u00E9 projevy jsme u vy\u0161et\u0159ovan\u00E9 \u017Eeny nepozorovali. Vedle tohoto v\u011Bt\u0161\u00EDho SMC jsme d\u00E1le nalezli druh\u00FD, men\u0161\u00ED SMC, kter\u00FD nebylo mo\u017En\u00E9 pro jeho n\u00EDzkou frekvenci a mal\u00FD rozsah bl\u00ED\u017Ee identifikovat. Je pravd\u011Bpodobn\u00E9, \u017Ee \u0161lo o \u00FAsek tvo\u0159en\u00FD v\u00FDhradn\u011B konstitutivn\u00EDm heterochromatinem."@cs . "RIV/00216208:11130/14:10286370!RIV15-TA0-11130___" . .