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Pregled bibliografske jedinice broj: 327467

Screening of patients at risk for 22q11.2 deletion


Barišić, Ingeborg; Morožin Pohovski, Leona; Petković, Iskra; Cvetko, Željko; Stipančić, Gordana; Bagatin, Mario
Screening of patients at risk for 22q11.2 deletion // Collegium Antropologicum, 32 (2008), 1; 165-169 (međunarodna recenzija, članak, znanstveni)


CROSBI ID: 327467 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Screening of patients at risk for 22q11.2 deletion

Autori
Barišić, Ingeborg ; Morožin Pohovski, Leona ; Petković, Iskra ; Cvetko, Željko ; Stipančić, Gordana ; Bagatin, Mario

Izvornik
Collegium Antropologicum (0350-6134) 32 (2008), 1; 165-169

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
chromosome 22q11.2 deletion; heart malformation; cleft lip; cleft palate; hypocalcemia

Sažetak
The aim of this study was to determine whether deletion 22q11.2 studies should become a part of a standardized diagnostic workup for selected groups of at risk patients.We prospectively investigated four cohorts of unselected patients referred because of:1)congenital heart defect (CHD), 2)palatal anomalies, 3)hypocalcemia, 4)dysmorphic features suggestive of del22q11.2.Fluorescence in situ hybridization analysis revealed deletion 22q11.2 in 9.4% (6/64) patients with CHD.From 18 patients referred because of the hypocalcemia , six (33.3%) had 22q11.2 deletion.In the group of 31 children with dysmorphic traits, the diagnosis was confirmed in two (6.4%) patients.None of the 58 children with palatal anomalies showed evidence of 22q11.2 deletion.Conclusions: Testing for the 22q11.2 microdeletion can be recommended in all patients with conotruncal heart defects and in patients with hypocalcemia.It should be also considered in patients presenting only with dysmorphic traits suggestive of del 22q11.2, while screening in patients with cleft palate is not warranted

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA


Projekt / tema
072-1083107-0361 - Telomere i kromosomske aberacije u patologiji dječje dobi (Petković, Iskra, MZOS - )
072-1083107-0365 - Istraživanje epidemiologijskih i genetičkih osnova prirođenih mana (Barišić, Ingeborg, MZOS - )

Ustanove
Klinika za dječje bolesti Medicinskog fakulteta

Citiraj ovu publikaciju

Barišić, Ingeborg; Morožin Pohovski, Leona; Petković, Iskra; Cvetko, Željko; Stipančić, Gordana; Bagatin, Mario
Screening of patients at risk for 22q11.2 deletion // Collegium Antropologicum, 32 (2008), 1; 165-169 (međunarodna recenzija, članak, znanstveni)
Barišić, I., Morožin Pohovski, L., Petković, I., Cvetko, Ž., Stipančić, G. & Bagatin, M. (2008) Screening of patients at risk for 22q11.2 deletion. Collegium Antropologicum, 32 (1), 165-169.
@article{article, year = {2008}, pages = {165-169}, keywords = {chromosome 22q11.2 deletion, heart malformation, cleft lip, cleft palate, hypocalcemia}, journal = {Collegium Antropologicum}, volume = {32}, number = {1}, issn = {0350-6134}, title = {Screening of patients at risk for 22q11.2 deletion}, keyword = {chromosome 22q11.2 deletion, heart malformation, cleft lip, cleft palate, hypocalcemia} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Social Science Citation Index (SSCI)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE





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