[PDF][PDF] Screening of patients at risk for 22q11 deletion
I Barišić, L Morožin Pohovski, I Petković… - Collegium …, 2008 - hrcak.srce.hr
I Barišić, L Morožin Pohovski, I Petković, Ž Cvetko, G Stipančić, M Bagatin
Collegium antropologicum, 2008•hrcak.srce.hr… 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) hypocalcaemia, 4) dysmorphic
features suggestive of del 22q11.2. Fluorescence in situ hybridization analysis revealed …
In view of the high frequency of del 22q11.2 among CTD patients, the fact that clinical diagnosis …
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) hypocalcaemia, 4) dysmorphic
features suggestive of del 22q11.2. Fluorescence in situ hybridization analysis revealed …
In view of the high frequency of del 22q11.2 among CTD patients, the fact that clinical diagnosis …
Sažetak
The aim of this study was to determine whether deletion 22q11. 2 studies should become a part of a standardized diagnostic
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