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

• Autoři: ZRNOVÁ Eva; VRANOVÁ Vladimíra; SLÁMOVÁ Iva; GAILLYOVÁ Renata; KUGLÍK Petr
• Rok publikování: 2011
• Druh: Článek v odborném periodiku
• Časopis / Zdroj: Folia biologica
• Fakulta / Pracoviště MU: Přírodovědecká fakulta
• www: http://fb.cuni.cz/volume-57-2011-no-5
• Obor: Genetika a molekulární biologie
• Klíčová slova: array-CGH; DNA microarray; mental retardation; chromosomal aberrations
• Popis: 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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