Pregled bibliografske jedinice broj: 735280
Multiplex ligation-dependent probe amplification (MLPA) genetic testing in the diagnostics of children with developmental delay/intellectual disabilities.
Multiplex ligation-dependent probe amplification (MLPA) genetic testing in the diagnostics of children with developmental delay/intellectual disabilities. // Folia medica Facultatis medicinae Universitatis Saraeviensis, 49 (2014), 1; 15-21 (podatak o recenziji nije dostupan, pregledni rad, ostalo)
CROSBI ID: 735280 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Multiplex ligation-dependent probe amplification (MLPA) genetic testing in the diagnostics of children with developmental delay/intellectual disabilities.
Autori
Morožin Pohovski, Leona ; Barišić, Ingeborg
Izvornik
Folia medica Facultatis medicinae Universitatis Saraeviensis (0352-9630) 49
(2014), 1;
15-21
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, pregledni rad, ostalo
Ključne riječi
intellectual disabilities; child; chromosome aberrations; genetic testing
Sažetak
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.
Izvorni jezik
Engleski
Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti
POVEZANOST RADA
Projekti:
072-1083107-0361 - Telomere i kromosomske aberacije u patologiji dječje dobi (Petković, Iskra, MZOS ) ( CroRIS)
Ustanove:
Klinika za dječje bolesti Medicinskog fakulteta
Citiraj ovu publikaciju:
Uključenost u ostale bibliografske baze podataka::
- EBSCO Publishing