Multiplex ligation-dependent probe amplification (MLPA) genetic testing in the diagnostics of children with developmental delay/intellectual disabilities. (CROSBI ID 212734)
Prilog u časopisu | pregledni rad (stručni)
Podaci o odgovornosti
Morožin Pohovski, Leona ; Barišić, Ingeborg
engleski
Multiplex ligation-dependent probe amplification (MLPA) genetic testing in the diagnostics of children with developmental delay/intellectual disabilities.
Developmental delay/intellectual disability (DD/ID) affects 1%-3% of the children population. Specific genetic factors are the most common cause of DD/ID. Results of the new molecular karyotyping techniques indicate a high incidence of submicroscopic rearrangements in patients with DD/ID. The implementation of Multiplex Ligation- Dependent Probe Amplification (MLPA) has enabled analysis of microdeletion/microduplication syndromes and subtelomeric chromosome aberrations. MLPA follow-up probe mix for specific subtelomeric regions and microdeletion syndromes has proven to be suitable for confirmation and better characterization of selected aberrations for better diagnostic and prognostic information on the patient.
intellectual disabilities; child; chromosome aberrations; genetic testing
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Podaci o izdanju
49 (1)
2014.
15-21
objavljeno
0352-9630
2303-6141