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A rare de novo duplication 21q22.3 syndrome - case report


Pušeljić, Silvija; Wagner, Jasenka; Škrlec, Ivana; Čokolić Petrović, Dunja; Kos, Martina; Pušeljić, Nora; Milas, Diana; Milas, Vesna
A rare de novo duplication 21q22.3 syndrome - case report // International Sociiety for Applied Biological Science, Program and Abstracts / Primorac, Dragan ; Schanfield, Moses ; Pavlović, Stanimir Vuk ; Kayser, Manfred ; Ordog, Tamas (ur.).
Zagreb: Grafički zavod Hrvatske d.o.o., 2017. str. 298-298 (poster, međunarodna recenzija, sažetak, znanstveni)


Naslov
A rare de novo duplication 21q22.3 syndrome - case report

Autori
Pušeljić, Silvija ; Wagner, Jasenka ; Škrlec, Ivana ; Čokolić Petrović, Dunja ; Kos, Martina ; Pušeljić, Nora ; Milas, Diana ; Milas, Vesna

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

Izvornik
International Sociiety for Applied Biological Science, Program and Abstracts / Primorac, Dragan ; Schanfield, Moses ; Pavlović, Stanimir Vuk ; Kayser, Manfred ; Ordog, Tamas - Zagreb : Grafički zavod Hrvatske d.o.o., 2017, 298-298

ISBN
9789535769521

Skup
10th ISABS Conference on Forensic and Anthropologic Genetics and Mayo Clinic Lectures in Individualized Medicine

Mjesto i datum
Dubrovnik, RHrvatska, 19-24.06.2017

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Multiplex ligation-dependent probe amplification (MLPA), intelectual disability, microduplication, epilepsy, failure to trive

Sažetak
A four year old boy with de novo duplication 21q22.3 was presented ; he has a mild Down syndrome fenotipe, psychomotor deley, generalised hypotonia, failure to trive and recurent respiratory infections, seizures, epichantal folds, high arched palate, strabismus, large low ser ears and joint hyperlaxity. Cromosome analysis was performed on cultivated peripheral blood leucocytes using standard GTG banding technique.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA


Ustanove
Klinički bolnički centar Osijek,
Medicinski fakultet, Osijek,
Fakultet za dentalnu medicinu i zdravstvo, Osijek