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Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients

✍ Scribed by GM Repetto; ML Guzmán; A Puga; JF Calderón; CP Astete; M Aracena; M Arriaza; T Aravena; P Sanz


Book ID
110888848
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
467 KB
Volume
76
Category
Article
ISSN
0009-9163

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Chromosome 22q11.2 microdeletions in vel
✍ Ravnan, J. Britt; Chen, Emily; Golabi, Mahin; Lebo, Roger V. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 677 KB

Vtalocardiofacial syndrome (VCFS) and the DiGeorge sequence (DGS) are caused by 22q11.2 deletions. Fluorescence in situ hybisidization (FISH) using the DiGeorge chromosome region (DGCR) probe (Oncor) was used to detect 31 deletions in 100 patients with possible VCFS. Retrospective FISH analysis of a