Review article

Molecular karyotyping – a new approach in clinical and laboratory genetics

Luca Lovrečić orcid.org/0000-0003-4119-9530 ; Klinički institut za medicinsku genetiku, Klinika za ginekologiju i porodništvo, Univerzitetski medicinski centar Ljubljana, Ljubljana, Slovenija
Irena Vrečar ; Klinički institut za medicinsku genetiku, Klinika za ginekologiju i porodništvo, Univerzitetski medicinski centar Ljubljana, Ljubljana, Slovenija
Borut Peterlin orcid.org/0000-0001-7824-4978 ; Klinički institut za medicinsku genetiku, Klinika za ginekologiju i porodništvo, Univerzitetski medicinski centar Ljubljana, Ljubljana, Slovenija

Abstract

Molecular karyotyping enables the analysis of the entire human genome on high resolution scale. Smaller genomic mutations (microdeletions, microduplicaitons) that are not detectable using conventional G-banded karyotyping, are present in about 15 % of patients with suspected genetic disease. In certain clinical settings molecular karyotyping has already replaced classical karyotype analysis and is used in postnatal as well as in prenatal genetic diagnosis.

Keywords

array based comparative genomic hybridization; developmental delay; microdeletions; prenatal genetic diagnosis

Hrčak ID:

121870

URI

https://hrcak.srce.hr/121870

Publication date:

2.6.2014.

Article data in other languages: croatian

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