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.,
The 22q11.2 deletion in African-American patients: An underdiagnosed population?
β Scribed by Donna M. McDonald-McGinn; Nancy Minugh-Purvis; Richard E. Kirschner; Abbas Jawad; Melissa K. Tonnesen; Jason R. Catanzaro; Elizabeth Goldmuntz; Deborah Driscoll; Don LaRossa; Beverly S. Emanuel; Elaine H. Zackai
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 180 KB
- Volume
- 134A
- Category
- Article
- ISSN
- 1552-4825
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We report on a new patient with deletion of 22q11 associated with hemophagocytic lymphohistiocytosis and a fatal outcome. She had minor facial anomalies and cardiac malformation corresponding to those described in del (22q11) syndrome, normal T and B cell function and NK activity; bone marrow aspira
## 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 bloodβcell chromosome 22q11.2 deletion are also missing the 22q11.2 deletion in myocardial cells, and wheth