Analysis of chromosomal aberrations in patients with mental
retardation using array-CGH technique: a single Czech Centre
experience

J 2011

Analysis of chromosomal aberrations in patients with mental retardation using array-CGH technique: a single Czech Centre experience

ZRNOVÁ, Eva, Vladimíra VRANOVÁ, Iva SLÁMOVÁ, Renata GAILLYOVÁ, Petr KUGLÍK et. al.

Basic information

Original name

Analysis of chromosomal aberrations in patients with mental retardation using array-CGH technique: a single Czech Centre experience

Authors

ZRNOVÁ, Eva (203 Czech Republic, belonging to the institution), Vladimíra VRANOVÁ (703 Slovakia, belonging to the institution), Iva SLÁMOVÁ (203 Czech Republic, belonging to the institution), Renata GAILLYOVÁ (203 Czech Republic, belonging to the institution) and Petr KUGLÍK (203 Czech Republic, guarantor, belonging to the institution)

Edition

Folia biologica, Praha, 2011, 0015-5500

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

Genetics and molecular biology

Country of publisher

Czech Republic

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 1.151

RIV identification code

RIV/00216224:14310/11:00054291

Organization unit

Faculty of Science

UT WoS

000297182800005

Keywords in English

array-CGH; DNA microarray; mental retardation; chromosomal aberrations

Abstract

V originále

Submicroscopic structural chromosomal aberrations (microduplications and microdeletions) are believed to be common causes of mental retardation. These so-called copy number variations can now be routinely detected using various platforms for array-based comparative genomic hybridization (array-CGH), which allow genome-wide identification of pathogenic genomic imbalances. In this study, oligonucleotide-based array-CGH was used to investigate a panel of 23 patients with mental retardation and developmental delay, dysmorphic features or congenital anomalies. Array-CGH confirmed or revealed 16 chromosomal aberrations in a total of 12 patients. Analysis of parental samples showed that five aberrations had occurred de novo: del(1)(p36.33p36.23), del(4)(p16.3p16.2) joined with dup(8)(p23.3p23.1), del(6)(q14.1q15), del(11)(q13.1q13.4).

Links

MSM0021622415, plan (intention)

Name: Molekulární podstata buněčných a tkáňových regulací

Investor: Ministry of Education, Youth and Sports of the CR, Molecular basis of cell and tissue regulations

Citovat

ZRNOVÁ, Eva, Vladimíra VRANOVÁ, Iva SLÁMOVÁ, Renata GAILLYOVÁ and Petr KUGLÍK. Analysis of chromosomal aberrations in patients with mental retardation using array-CGH technique: a single Czech Centre experience. Folia biologica. Praha, 2011, vol. 2011, 57 No.5, p. 206-215. ISSN 0015-5500.

@article{961269,
   author = {Zrnová, Eva and Vranová, Vladimíra and Slámová, Iva and Gaillyová, Renata and Kuglík, Petr},
   article_location = {Praha},
   article_number = {57 No.5},
   keywords = {array-CGH; DNA microarray; mental retardation; chromosomal aberrations},
   language = {eng},
   issn = {0015-5500},
   journal = {Folia biologica},
   title = {Analysis of chromosomal aberrations in patients with mental retardation using array-CGH technique: a single Czech Centre experience},
   url = {http://fb.cuni.cz/volume-57-2011-no-5},
   volume = {2011},
   year = {2011}
}

TY  - JOUR
ID  - 961269
AU  - Zrnová, Eva - Vranová, Vladimíra - Slámová, Iva - Gaillyová, Renata - Kuglík, Petr
PY  - 2011
TI  - Analysis of chromosomal aberrations in patients with mental retardation using array-CGH technique: a single Czech Centre experience
JF  - Folia biologica
VL  - 2011
IS  - 57 No.5
SP  - 206-215
EP  - 206-215
SN  - 00155500
KW  - array-CGH
KW  - DNA microarray
KW  - mental retardation
KW  - chromosomal aberrations
UR  - http://fb.cuni.cz/volume-57-2011-no-5
N2  - Submicroscopic structural chromosomal aberrations (microduplications and microdeletions) are believed to be common causes of mental retardation. These so-called copy number variations can now be routinely detected using various platforms for array-based comparative genomic hybridization (array-CGH), which allow genome-wide identification of pathogenic genomic imbalances. In this study, oligonucleotide-based array-CGH was used to investigate a panel of 23 patients with mental retardation and developmental delay, dysmorphic features or congenital anomalies. Array-CGH confirmed or revealed 16 chromosomal aberrations in a total of 12 patients. Analysis of parental samples showed that five aberrations had occurred de novo: del(1)(p36.33p36.23), del(4)(p16.3p16.2) joined with dup(8)(p23.3p23.1), del(6)(q14.1q15), del(11)(q13.1q13.4).
ER  -

ZRNOVÁ, Eva, Vladimíra VRANOVÁ, Iva SLÁMOVÁ, Renata GAILLYOVÁ and Petr KUGLÍK. Analysis of chromosomal aberrations in patients with mental retardation using array-CGH technique: a single Czech Centre experience. \textit{Folia biologica}. Praha, 2011, vol.~2011, 57 No.5, p.~206-215. ISSN~0015-5500.

Detailed Information on Publication Record