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.

Základní údaje

Originální název

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

Autoři

ZRNOVÁ, Eva; Vladimíra VRANOVÁ; Iva SLÁMOVÁ; Renata GAILLYOVÁ a Petr KUGLÍK

Vydání

Folia biologica, Praha, 2011, 0015-5500

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

Genetika a molekulární biologie

Stát vydavatele

Česká republika

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 1.151

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14310/11:00054291

Organizační jednotka

Přírodovědecká fakulta

UT WoS

000297182800005

Klíčová slova anglicky

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

Štítky

AKR, rivok

Změněno: 8. 12. 2011 13:13, Mgr. Eva Hladílková, Ph.D.

Anotace

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).

Návaznosti

MSM0021622415, záměr

Název: Molekulární podstata buněčných a tkáňových regulací

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

Citovat

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

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