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Pregled bibliografske jedinice broj: 396807

Diagnostic strategy integrating clinical, cytogenetic, FISH and molecular studies in evaluation of patients with developmental delay


Petković, Iskra; Barišić, Ingeborg
Diagnostic strategy integrating clinical, cytogenetic, FISH and molecular studies in evaluation of patients with developmental delay // Paediatria Croatica. Supplement 2 / Barišić, Ingeborg (ur.).
Zagreb, 2009. str. 33-33 (poster, međunarodna recenzija, sažetak, znanstveni)


CROSBI ID: 396807 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Diagnostic strategy integrating clinical, cytogenetic, FISH and molecular studies in evaluation of patients with developmental delay

Autori
Petković, Iskra ; Barišić, Ingeborg

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

Izvornik
Paediatria Croatica. Supplement 2 / Barišić, Ingeborg - Zagreb, 2009, 33-33

Skup
8th Balkan Meeting on Human Genetics

Mjesto i datum
Cavtat, Hrvatska, 14-17.05.2009

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Developmental delay; Cytogenetics; FISH; Molecular analysis

Sažetak
We present the results of cytogenetic and molecular studies in 170 children referred to the Department of Medical Genetics for developmental and somatic delay, congenital malformation, dysmorphic features and behavioural problems of unknown etiology (common aneuploidy syndromes were excluded). The aim of this study was to determine the frequency of structural aberrations and to evaluate diagnostic algorithm that starts with clinical examination, followed by cytogenetic, FISH and molecular analysis. Cytogenetic analysis was carried out on slides obtained by peripheral blood culture using high resolution GTG-, RBG- and CBG-banding methods. FISH studies were performed using WCP-, CEP-, LSI-probes and subtelomere FISH screening assay. For understanding of the mechanism of formation, precise identification of breakpoints, and parental origin of rearrangements, additional FISH and molecular studies including both parents and sibs were performed. Cytogenetic analysis revealed structural chromosome aberrations in 12 (7.1%) out of 170 children. FISH analysis with microdeletion probes were performed in 127 out of 158 patients and microdeletions were identified in 14 (11.0%) cases. Rearrangements involving subtelomeric regions were detected in 2 (6.5%) out of 31 screened children. In our sample we identified 28 (16.5%) children with structural aberrations including 23 (13.5%) children with unbalanced rerrangements /dup(16) ; dup(8) ; der(15)t(15 ; 18) ; der(8)t(7 ; 8) ; der (X)t(X ; 6) ; del(2) ; del(14) ; r(9) ; psu idic(X) and 14interstitioal microdeletions/, 3 (1.8%) with apparently balanced aberrations /inv(13) ; t(6 ; 17) ; t(6 ; 19)/ and 2 (1.2%) with complex apparently balanced abnormalities /t(1 ; 4), t(2 ; 14), inv(3) ; t(6 ; 19), t(2 ; 13)/. This study demonstrates the usefulness of diagnostic strategy that integrates clinical, cytogenetic, FISH and molecular analysis in the identification of genome imbalances in patients with developmental delay.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA


Projekt / tema
072-1083107-0361 - Telomere i kromosomske aberacije u patologiji dječje dobi (Petković, Iskra, MZOS - )
072-1083107-0365 - Istraživanje epidemiologijskih i genetičkih osnova prirođenih mana (Barišić, Ingeborg, MZOS - )

Ustanove
Klinika za dječje bolesti Medicinskog fakulteta

Profili:

Avatar Url Ingeborg Barišić (autor)

Avatar Url Iskra Petković (autor)

Citiraj ovu publikaciju

Petković, Iskra; Barišić, Ingeborg
Diagnostic strategy integrating clinical, cytogenetic, FISH and molecular studies in evaluation of patients with developmental delay // Paediatria Croatica. Supplement 2 / Barišić, Ingeborg (ur.).
Zagreb, 2009. str. 33-33 (poster, međunarodna recenzija, sažetak, znanstveni)
Petković, I. & Barišić, I. (2009) Diagnostic strategy integrating clinical, cytogenetic, FISH and molecular studies in evaluation of patients with developmental delay. U: Barišić, I. (ur.)Paediatria Croatica. Supplement 2.
@article{article, editor = {Bari\v{s}i\'{c}, I.}, year = {2009}, pages = {33-33}, keywords = {Developmental delay, Cytogenetics, FISH, Molecular analysis}, title = {Diagnostic strategy integrating clinical, cytogenetic, FISH and molecular studies in evaluation of patients with developmental delay}, keyword = {Developmental delay, Cytogenetics, FISH, Molecular analysis}, publisherplace = {Cavtat, Hrvatska} }

Časopis indeksira:


  • Scopus





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