Pregled bibliografske jedinice broj: 977335
A rare de novo duplication 21q22.3 syndrome - case report
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, 2017. str. 298-298 (poster, međunarodna recenzija, sažetak, znanstveni)
CROSBI ID: 977335 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
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, 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, Hrvatska, 19.06.2017. - 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
