Since establishment of fluorescence in situ hybridization (FISH), microdeletions in 22q11.2 were detectable in an increasing number of patients with DiGeorge anomaly, velocardiofacial syndrome (VCFS, syn. Shprintzen syndrome) and conotruncalanomaly-face syndrome [Scambler et al., 1991;Carey et al.,
Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome
โ Scribed by Melissa A. Dempsey; Stuart Schwartz; Darrel J. Waggoner
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 172 KB
- Volume
- 143A
- Category
- Article
- ISSN
- 1552-4825
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## Abstract ## BACKGROUND Some patients with conotruncal heart defects (CTDs) have a chromosome 22q11.2 deletion, but we do not know whether patients with CTDs who are missing the peripheral bloodโcell chromosome 22q11.2 deletion are also missing the 22q11.2 deletion in myocardial cells, and wheth