Naslov
MLPA analysis in a cohort of patients with intellectual disabilities

Autori
Škrlec, Ivana ; Anđelić, Mirna ; Teran, Nataša ; Hodžić, Alenka ; Tomac, Višnja ; Štibi, Sanela ; Pušeljić, Silvija ; Peterlin, Borut ; Wagner, Jasenka

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Meeting abstracts from the 11th European Cytogenetics Conference / - : Molecular Cytogenetics, 2017, 17-17

Skup
11th European Cytogenetics Conference

Mjesto i datum
Firenca, Italija, 01.07.2017. - 04.07.2017

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
MLPA ; intellectual disability ; subtelomeric aberrations

Sažetak
Intellectual disability is a common neurodevelopment disorder which manifests as severely impaired cognitive development in early childhood and adolescence. In recent years advances in molecular cytogenetic and molecular genetics have shown that submicroscopic genome abnormalities are a frequent, until now under- recognized, cause of intellectual disability. The objectives of this study were to discover new genetic causes of intellectual disability using the MLPA method, to determine the prevalence of chromosomal aberrations detected using MLPA and the assessment of this technique as a screening method in the evaluation of clinically relevant and newly discovered variations in the number of copies of DNA associated with the intellectual disability. We conducted a retrospective study of chromosomal changes in subtelomeric regions in patients with intellectual disabilities. 50 children (10 girls and 40 boys) participated in the study. They were referred for mental retardation/developmental delay and were evaluated at the Pediatric Clinics, University Hospital Osijek. Initial genetic testing that included karyotyping and molecular-genetic analysis for fragile X syndrome were performed. Since all patients had normal results of initial testing, MLPA testing using probes for the detection of subtelomeric changes (P036 and P070) was performed. The study has shown pathological CNV changes in 5 patients (2 girls and 3 boys) or 10%. The changes were observed on chromosomes 15, 19, 21 and X, and are in accordance with the clinical features of the patients. Our study has shown that the MLPA method is a useful screening method for patients with intellectual disability. The prevalence of chromosomal aberrations detected using this technique was higher than expected (10%), but this could be due to the small number of tested samples.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

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