High resolution comparative genomic hybridisation analysis for
detecting small constitutional chromosome abnormalities

D 2005

High resolution comparative genomic hybridisation analysis for detecting small constitutional chromosome abnormalities

VRANOVÁ, Vladimíra, Petr KUGLÍK, Martina PEŠÁKOVÁ, Iva SLÁMOVÁ, Dita ŽEŽULKOVÁ et. al.

Základní údaje

Originální název

High resolution comparative genomic hybridisation analysis for detecting small constitutional chromosome abnormalities

Název česky

Využití techniky komparativní genomové hybridizace s vysokým rozlišením k detekci malých vrozených chromozomových aberací

Autoři

VRANOVÁ, Vladimíra (703 Slovensko), Petr KUGLÍK (203 Česká republika, garant), Martina PEŠÁKOVÁ (203 Česká republika), Iva SLÁMOVÁ (203 Česká republika), Dita ŽEŽULKOVÁ (203 Česká republika), Marcela VILÉMOVÁ (203 Česká republika), Alexandra OLTOVÁ (203 Česká republika) a Renata GAILLYOVÁ (203 Česká republika)

Vydání

Praha, European Journal of Human Genetics, s. 83-83, 2005

Nakladatel

Nature Publishing Group

Další údaje

Jazyk

angličtina

Typ výsledku

Stať ve sborníku

Obor

Genetika a molekulární biologie

Stát vydavatele

Dánsko

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 3.251

Kód RIV

RIV/00216224:14310/05:00014609

Organizační jednotka

Přírodovědecká fakulta

ISSN

Klíčová slova anglicky

HR-CGH; FISH; spectral karyotyping; constitutional chromosome aberrations

Štítky

constitutional chromosome aberrations, FISH, HR-CGH, spectral karyotyping

Změněno: 9. 4. 2010 10:45, doc. RNDr. Petr Kuglík, CSc.

Anotace

ORIG CZ

V originále

Comparative genomic hybridization (CGH) is a molecular cytogentic technique that can characterize excess and missing cytogenetic materiál often unrecognizable by G-banding. Recently, CGH has been further improved as high-resolution CGH which may detect aberrations down to 3-5 Mb and enhance the sensitivity in the detection of aberrations. Although the major application of CGH has been in the field of cancer genetics, the utilization of CGH as a tool in clinical cytogenetics is also increasing. In clinical cytogenetics CGH has been particularly useful by facilitating the identification and characterization of intrachromosomal duplication, deletions, unbalanced translocations and maker chromosomes. We here report the application of the recently developed metod of high resolution CGH (HR-CGH) for clarification of small terminal imbalances in 4 patients with abnormal karyotypes and dysmorphic features. In our work we performed the characterization of de novo alterations such as add(1p), add(4p), add(6p) and add(17p) by using HR-CGH. The results were subsequently confirmed by FISH and spectral karyotyping (SKY).The following findings were der(1)t(1;11), inv(4p), dup(6p) and der(17)t(11;17). We conclude that HR-CGH can be used as excellent diagnostic tool for clarification and identification of chromosomal imbalances not evident on routine cytogenetic analysis.

Česky

Práce se zabývá využitím techniky komparativní genomové hybridizace pi objasování pvod drobných vrozených chromozomových aberací u 4 pacient s dysmorfickými rysy.

Návaznosti

MSM0021622415, záměr

Název: Molekulární podstata buněčných a tkáňových regulací

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Molekulární podstata buněčných a tkáňových regulací

Citovat

VRANOVÁ, Vladimíra, Petr KUGLÍK, Martina PEŠÁKOVÁ, Iva SLÁMOVÁ, Dita ŽEŽULKOVÁ, Marcela VILÉMOVÁ, Alexandra OLTOVÁ a Renata GAILLYOVÁ. High resolution comparative genomic hybridisation analysis for detecting small constitutional chromosome abnormalities. In European Journal of Human Genetics. Praha: Nature Publishing Group, 2005, s. 83. ISSN 1018-4813.

@inproceedings{618527,
   author = {Vranová, Vladimíra and Kuglík, Petr and Pešáková, Martina and Slámová, Iva and Žežulková, Dita and Vilémová, Marcela and Oltová, Alexandra and Gaillyová, Renata},
   address = {Praha},
   booktitle = {European Journal of Human Genetics},
   keywords = {HR-CGH; FISH; spectral karyotyping; constitutional chromosome aberrations},
   language = {eng},
   location = {Praha},
   pages = {83-83},
   publisher = {Nature Publishing Group},
   title = {High resolution comparative genomic hybridisation analysis for detecting small constitutional chromosome abnormalities},
   year = {2005}
}

TY  - JOUR
ID  - 618527
AU  - Vranová, Vladimíra - Kuglík, Petr - Pešáková, Martina - Slámová, Iva - Žežulková, Dita - Vilémová, Marcela - Oltová, Alexandra - Gaillyová, Renata
PY  - 2005
TI  - High resolution comparative genomic hybridisation analysis for detecting small constitutional chromosome abnormalities
PB  - Nature Publishing Group
CY  - Praha
KW  - HR-CGH
KW  - FISH
KW  - spectral karyotyping
KW  - constitutional chromosome aberrations
N2  - Comparative genomic hybridization (CGH) is a molecular cytogentic technique that can characterize excess and missing cytogenetic materiál often unrecognizable by G-banding. Recently, CGH has been further improved as high-resolution CGH which may detect aberrations down to 3-5 Mb and enhance the sensitivity in the detection of aberrations. Although the major application of CGH has been in the field of cancer genetics, the utilization of CGH as a tool in clinical cytogenetics is also increasing. In clinical cytogenetics CGH has been particularly useful by facilitating the identification and characterization of intrachromosomal duplication, deletions, unbalanced translocations and maker chromosomes. We here report the application of the recently developed metod of high resolution CGH (HR-CGH) for clarification of small terminal imbalances in 4 patients with abnormal karyotypes and dysmorphic features. In our work we performed the characterization of de novo alterations such as add(1p), add(4p), add(6p) and add(17p) by using HR-CGH. The results were subsequently confirmed by FISH and spectral karyotyping (SKY).The following findings were der(1)t(1;11), inv(4p), dup(6p) and der(17)t(11;17). We conclude that HR-CGH can be used as excellent diagnostic tool for clarification and identification of chromosomal imbalances not evident on routine cytogenetic analysis.
ER  -

VRANOVÁ, Vladimíra, Petr KUGLÍK, Martina PEŠÁKOVÁ, Iva SLÁMOVÁ, Dita ŽEŽULKOVÁ, Marcela VILÉMOVÁ, Alexandra OLTOVÁ a Renata GAILLYOVÁ. High resolution comparative genomic hybridisation analysis for detecting small constitutional chromosome abnormalities. In \textit{European Journal of Human Genetics}. Praha: Nature Publishing Group, 2005, s.~83. ISSN~1018-4813.

Podrobný výpis o publikaci