Publication details
Analysis of chromosomal aberrations in patients with mental retardation using array
-CGH technique: a single Czech Centre experience
| Basic information | |
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| Original title: | Analysis of chromosomal aberrations in patients with mental retardation using array-CGH technique: a single Czech Centre experience |
| Authors: | Eva Zrnová, Vladimíra Vranová, Iva Slámová, Renata Gaillyová, Petr Kuglík |
| Further information | |
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| Citation: | ZRNOVÁ, Eva - VRANOVÁ, Vladimíra - SLÁMOVÁ, Iva - GAILLYOVÁ, Renata - KUGLÍK, Petr. Analysis of chromosomal aberrations in patients with mental retardation using array-CGH technique: a single Czech Centre experience. Folia biologica, Praha, . ISSN 0015-5500, 2011, vol. 2011, no. 57 no.5, pp. 206-215. |
| Original language: | English |
| Field: | Genetics and molecular biology |
| WWW: |  http://fb.cuni.cz/volume-57-2011-no-5 |
| Type: | Article in Periodical |
| Keywords: | array-CGH; DNA microarray; mental retardation; chromosomal aberrations |
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).
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