A rare de novo duplication 21q22.3 syndrome - case report (CROSBI ID 671272)
Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | međunarodna recenzija
Podaci o odgovornosti
Pušeljić, Silvija ; Wagner, Jasenka ; Škrlec, Ivana ; Čokolić Petrović, Dunja ; Kos, Martina ; Pušeljić, Nora ; Milas, Diana ; Milas, Vesna
engleski
A rare de novo duplication 21q22.3 syndrome - case report
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.
multiplex ligation-dependent probe amplification (MLPA), intelectual disability, microduplication, epilepsy, failure to trive
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Podaci o prilogu
298-298.
2017.
nije evidentirano
objavljeno
9789535769521
Podaci o matičnoj publikaciji
International Sociiety for Applied Biological Science, Program and Abstracts
Primorac, Dragan ; Schanfield, Moses ; Pavlović, Stanimir Vuk ; Kayser, Manfred ; Ordog, Tamas
Zagreb: Grafički zavod Hrvatske
Podaci o skupu
10th ISABS Conference on Forensic and Anthropologic Genetics and Mayo Clinic Lectures in Individualized Medicine
poster
19.06.2017-24.06.2017
Dubrovnik, Hrvatska