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Chromosome 22q11.2 microdeletion in a patient with hemophilia A

✍ Scribed by Murat Derbent; Namık Özbek; Füsun Alehan; Zerrin Yılmaz


Book ID
113455294
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
141 KB
Volume
47
Category
Article
ISSN
0003-3995

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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