Detection of submicroscopic deletions and a DNA polymorphism at the retinoblastoma locus
✍ Scribed by B. Horsthemke; Valerie Greger; H. J. Barnert; W. Höpping; E. Passarge
- Publisher
- Springer
- Year
- 1987
- Tongue
- English
- Weight
- 870 KB
- Volume
- 76
- Category
- Article
- ISSN
- 0340-6717
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DiGeorge anomaly (DGA) and velo-cardiofacial syndrome (VCFS) are frequently associated with monosomy of chromosome region 22qll. Most patients have a submicroscopic deletion, recently estimated to be at least 1-2 Mb. It is not clear whether individuals who present with only some of the features of t