. "poster: XXV. Izakovi\u010Dov memori\u00E1l, Tren\u010Diansk\u00E9 Teplice Prezentujeme p\u0159\u00EDpad \u0161estilet\u00E9ho chlapce s autistick\u00FDmi rysy a PMR, u n\u011Bho\u017E byla identifikov\u00E1na komplexn\u00ED chromozomov\u00E1 p\u0159estavba t\u0159\u00ED chromozom\u016F, a bli\u017E\u0161\u00ED charakterizaci t\u00E9to aberace. Jedn\u00E1 se o d\u00EDt\u011B z I. rizikov\u00E9 gravidity zdrav\u00E9 mlad\u00E9 \u017Eeny. V prvn\u00EDm trimestru t\u011Bhotn\u00E1 opakovan\u011B krv\u00E1cela; po celou dobu gravidity trp\u011Bla stresem pro vyhro\u017Eov\u00E1n\u00ED ze strany partnera z\u00E1visl\u00E9ho na pervitinu, kter\u00FD si narozen\u00ED d\u00EDt\u011Bte nep\u0159\u00E1l. V 8. m\u011Bs\u00EDci m\u011Bla autonehodu, po kter\u00E9 byla kr\u00E1tce v bezv\u011Bdom\u00ED, ale v\u00E1\u017En\u011Bj\u0161\u00ED zran\u011Bn\u00ED neutrp\u011Bla. Porod byl uskute\u010Dn\u011Bn v 39. t\u00FDdnu per sectionem pro abrupci placenty a hroz\u00EDc\u00ED hypoxii. Od kojeneck\u00E9ho v\u011Bku za\u010Dalo nar\u016Fstat mat\u010Dino podez\u0159en\u00ED na v\u00FDvojov\u00E9 opo\u017Ed\u011Bn\u00ED (zejm\u00E9na absenc\u00ED hlasov\u00FDch projev\u016F). Specialistou byl vy\u0161et\u0159en a\u017E v 1,5 roce na neurologii pro retardaci psychomotorick\u00E9ho v\u00FDvoje, pozd\u011Bji byl t\u00E9\u017E sledov\u00E1n na pedopsychiatrii pro suspekci na autismus - diagn\u00F3za nebyla jednozna\u010Dn\u011B potvrzena ani vyvr\u00E1cena. D\u00E1le u n\u011Bj doch\u00E1zelo k projev\u016Fm agrese, ty pozd\u011Bji vymizely. Na genetice byl poprv\u00E9 vy\u0161et\u0159en v p\u011Bti letech p\u0159i hospitalizaci na D\u011Btsk\u00E9 psychiatrick\u00E9 klinice FNM. Ve fenotypu pacienta nebyla shled\u00E1na \u017E\u00E1dn\u00E1 abnormalita, zato indikovan\u00E9 z\u00E1kladn\u00ED cytogenetick\u00E9 vy\u0161et\u0159en\u00ED odhalilo p\u0159estavbu chromozom\u016F 1, 3 a 15, kter\u00E1 byla d\u00E1le up\u0159esn\u011Bna prost\u0159ednictv\u00EDm vy\u0161et\u0159en\u00ED mFISH a aCGH. Aberace byla zp\u016Fsobena minim\u00E1ln\u011B 6 zlomy; v n\u011Bkter\u00FDch zlomov\u00FDch m\u00EDstech (zejm\u00E9na na chromozomu 3) byly identifikov\u00E1ny delece genetick\u00E9ho materi\u00E1lu. Konferen\u010Dn\u00ED poster p\u0159inese podrobn\u00E9 v\u00FDsledky anal\u00FDz aberace a jejich korelaci s fenotypem."@cs . . "[B5E1FFFC065B]" . "RIV/00216208:11130/14:10286375!RIV15-TA0-11130___" . . "Komplexn\u00ED chromozomov\u00E1 p\u0159estavba u chlapce z rizikov\u00E9 gravidity - kazuistika"@cs . "poster: XXV. Izakovi\u010Dov memori\u00E1l, Tren\u010Diansk\u00E9 Teplice Prezentujeme p\u0159\u00EDpad \u0161estilet\u00E9ho chlapce s autistick\u00FDmi rysy a PMR, u n\u011Bho\u017E byla identifikov\u00E1na komplexn\u00ED chromozomov\u00E1 p\u0159estavba t\u0159\u00ED chromozom\u016F, a bli\u017E\u0161\u00ED charakterizaci t\u00E9to aberace. Jedn\u00E1 se o d\u00EDt\u011B z I. rizikov\u00E9 gravidity zdrav\u00E9 mlad\u00E9 \u017Eeny. V prvn\u00EDm trimestru t\u011Bhotn\u00E1 opakovan\u011B krv\u00E1cela; po celou dobu gravidity trp\u011Bla stresem pro vyhro\u017Eov\u00E1n\u00ED ze strany partnera z\u00E1visl\u00E9ho na pervitinu, kter\u00FD si narozen\u00ED d\u00EDt\u011Bte nep\u0159\u00E1l. V 8. m\u011Bs\u00EDci m\u011Bla autonehodu, po kter\u00E9 byla kr\u00E1tce v bezv\u011Bdom\u00ED, ale v\u00E1\u017En\u011Bj\u0161\u00ED zran\u011Bn\u00ED neutrp\u011Bla. Porod byl uskute\u010Dn\u011Bn v 39. t\u00FDdnu per sectionem pro abrupci placenty a hroz\u00EDc\u00ED hypoxii. Od kojeneck\u00E9ho v\u011Bku za\u010Dalo nar\u016Fstat mat\u010Dino podez\u0159en\u00ED na v\u00FDvojov\u00E9 opo\u017Ed\u011Bn\u00ED (zejm\u00E9na absenc\u00ED hlasov\u00FDch projev\u016F). Specialistou byl vy\u0161et\u0159en a\u017E v 1,5 roce na neurologii pro retardaci psychomotorick\u00E9ho v\u00FDvoje, pozd\u011Bji byl t\u00E9\u017E sledov\u00E1n na pedopsychiatrii pro suspekci na autismus - diagn\u00F3za nebyla jednozna\u010Dn\u011B potvrzena ani vyvr\u00E1cena. D\u00E1le u n\u011Bj doch\u00E1zelo k projev\u016Fm agrese, ty pozd\u011Bji vymizely. Na genetice byl poprv\u00E9 vy\u0161et\u0159en v p\u011Bti letech p\u0159i hospitalizaci na D\u011Btsk\u00E9 psychiatrick\u00E9 klinice FNM. Ve fenotypu pacienta nebyla shled\u00E1na \u017E\u00E1dn\u00E1 abnormalita, zato indikovan\u00E9 z\u00E1kladn\u00ED cytogenetick\u00E9 vy\u0161et\u0159en\u00ED odhalilo p\u0159estavbu chromozom\u016F 1, 3 a 15, kter\u00E1 byla d\u00E1le up\u0159esn\u011Bna prost\u0159ednictv\u00EDm vy\u0161et\u0159en\u00ED mFISH a aCGH. Aberace byla zp\u016Fsobena minim\u00E1ln\u011B 6 zlomy; v n\u011Bkter\u00FDch zlomov\u00FDch m\u00EDstech (zejm\u00E9na na chromozomu 3) byly identifikov\u00E1ny delece genetick\u00E9ho materi\u00E1lu. Konferen\u010Dn\u00ED poster p\u0159inese podrobn\u00E9 v\u00FDsledky anal\u00FDz aberace a jejich korelaci s fenotypem." . . . "6"^^ . "Ko\u010D\u00E1rek, Eduard" . "Pourov\u00E1, Radka" . "Komplexn\u00ED chromozomov\u00E1 p\u0159estavba u chlapce z rizikov\u00E9 gravidity - kazuistika" . . . "6"^^ . "Voseck\u00E1, Tatiana" . . . . . "poster: XXV. Izakovi\u010Dov memorial, Tren\u010Diansk\u00E9 Teplice We present a case of six-year old boy with autistic features and PMR with complex chromosomal rearrangement of three chromosomes, and further characterization of this aberration. He was born from first high-risk pregnancy of a healthy young women. There were repeating bleedings in the first trimester of pregnancy; she suffered from stress throughout pregnancy for threats from the (methamphetamine-addict) partner who did not want the child's birth. In the eighth month she had a car accident with brief unconsciousness, but without any serious injury. Child was delivered in the 39th week of pregnancy by caesarean section for placental abruption and threatening hypoxia. From infancy, mother began to suspect his developmental delay (in particular the absence of vocal expression). He was examined by a specialist in his 1.5 year for the first time by neurologist for retarded psychomotor development, and later on he was also observed on child psychiatry for the suspicion of autism - diagnosis was not yet clearly confirmed nor refused. Furthermore, there were signs of aggression, which disappeared later. He was first genetically examined in five years during hospitalization in a psychiatric clinic for children FNM. Phenotype of the patient did not reveal any abnormality, but indicated basic cytogenetic examination revealed reconstruction of chromosomes 1, 3 and 15, which was further clarified by an examination mFISH and aCGH. Aberration is caused by at least 6 breakages; in certain break locations (particularly on chromosome 3) deletions of genetic material were identified. Conference poster brings detailed results from analysis of aberration and their correlation with phenotype."@en . "Complex chromosomal rearrangement in the boy from the high-risk pregnancy - case report"@en . "Dr\u00E1bov\u00E1, Jana" . . . "Complex chromosomal rearrangement in the boy from the high-risk pregnancy - case report"@en . "P(TA01010931), S" . "RIV/00216208:11130/14:10286375" . . . "Novotn\u00E1, Drahu\u0161e" . . . "24620" . "Komplexn\u00ED chromozomov\u00E1 p\u0159estavba u chlapce z rizikov\u00E9 gravidity - kazuistika"@cs . . "11130" . . "Tesner, Pavel" . "PMR/ID; autism; complex chromosomal rearrangement"@en . . . "Komplexn\u00ED chromozomov\u00E1 p\u0159estavba u chlapce z rizikov\u00E9 gravidity - kazuistika" .