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A rare de novo duplication 21q22.3 syndrome - case report (CROSBI ID 671272)

Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | međunarodna recenzija

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 et al. (ur.). Zagreb: Grafički zavod Hrvatske, 2017. str. 298-298

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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nije evidentirano

nije evidentirano

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

Povezanost rada

Kliničke medicinske znanosti