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Is the autosomal dominant Opitz GBBB syndrome part of the DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2?

✍ Scribed by Wulfsberg, Eric A.


Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
217 KB
Volume
64
Category
Article
ISSN
0148-7299

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Patient with a 22q11.2 deletion with no
✍ McQuade, Leon; Christodoulou, John; Budarf, Marcia; Sachdev, Rani; Wilson, Mered πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 39 KB πŸ‘ 3 views

The apparent lack of genotype/phenotype correlation in patients with the DiGeorge anomaly and velocardiofacial syndrome (DGA/VCFS; the "22q11 deletion syndrome") indicates a complex genetic condition. Most cases, whatever the phenotype, have a 1.5-3 ## Mb chromosomal deletion that includes the mini