Pregled bibliografske jedinice broj: 674628
Prenatally detected interstitial deletion 13q12.3– q22 in a fetus with a cystic hygroma
Prenatally detected interstitial deletion 13q12.3– q22 in a fetus with a cystic hygroma // Gene, 531 (2013), 1; 90-91 doi:10.1016/j.gene.2013.08.029 (međunarodna recenzija, kratko priopcenje, znanstveni)
CROSBI ID: 674628 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Prenatally detected interstitial deletion 13q12.3– q22 in a fetus with a cystic hygroma
Autori
Vičić, Ana ; Zudenigob, Damir ; Korać, Petra ; Liehre, Thomas ; Stipoljev, Feodora
Izvornik
Gene (0378-1119) 531
(2013), 1;
90-91
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, kratko priopcenje, znanstveni
Ključne riječi
aCGH; array-comparative genomic hybridization ;
Sažetak
Prenatally detected cases of 13q-syndrome are infrequently reported, especially those with proximal deletion 13q. To the best of our knowledge, case 2 presented by Tosca et al. (2011) in the article discussing genotype–phenotype correlation in patients with interstitial deletion 13q13.3 to 13q21.3, and the report of Miyake et al. (2008) on del(13)(q21.1q22.3) found in the fetus with a duodenal atresia are the only two reports on the prenatally diagnosed cases with interstitial deletion of 13q proximal segments. Herein, we present a case of del(13)(q12.3q22) in a fetus with a septated cystic hygroma, prenatally ascertained after chorionic villus sampling.
Izvorni jezik
Engleski
POVEZANOST RADA
Projekti:
108-1080399-0383 - Muški i ženski spolni sustav: razvoj, normalna histofiziologija i neplodnost (Ježek, Davor, MZOS ) ( CroRIS)
108-1081873-1893 - Prognostički faktori, dijagnostika i terapija hemoblastoza (Jakšić, Branimir, MZOS ) ( CroRIS)
Ustanove:
Klinička bolnica "Merkur",
Medicinski fakultet, Zagreb,
Prirodoslovno-matematički fakultet, Zagreb,
Klinička bolnica "Sveti Duh"
Citiraj ovu publikaciju:
Časopis indeksira:
- Current Contents Connect (CCC)
- Web of Science Core Collection (WoSCC)
- Science Citation Index Expanded (SCI-EXP)
- SCI-EXP, SSCI i/ili A&HCI
- Scopus
- MEDLINE
