MLPA analysis in a cohort of patients with intellectual disabilities (CROSBI ID 661806)
Prilog sa skupa u časopisu | sažetak izlaganja sa skupa | međunarodna recenzija
Podaci o odgovornosti
Škrlec, Ivana ; Anđelić, Mirna ; Teran, Nataša ; Hodžić, Alenka ; Tomac, Višnja ; Štibi, Sanela ; Pušeljić, Silvija ; Peterlin, Borut ; Wagner, Jasenka
engleski
MLPA analysis in a cohort of patients with intellectual disabilities
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.
MLPA ; intellectual disability ; subtelomeric aberrations
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Podaci o prilogu
17-17.
2017.
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objavljeno
10.1186/s13039-017-0319-3
Podaci o matičnoj publikaciji
Molecular Cytogenetics
Molecular Cytogenetics
1755-8166
Podaci o skupu
11th European Cytogenetics Conference
poster
01.07.2017-04.07.2017
Firenca, Italija
Povezanost rada
Kliničke medicinske znanosti, Temeljne medicinske znanosti