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Detection of an Atypical 22q11 Deletion That Has No Overlap with the DiGeorge Syndrome Critical Region

โœ Scribed by HILARY O'DONNELL; CAROLE MCKEOWN; CLIVE GOULD; BERNICE MORROW; PETER SCAMBLER


Book ID
117012830
Publisher
American Society of Human Genetics
Year
1997
Tongue
English
Weight
483 KB
Volume
60
Category
Article
ISSN
0002-9297

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Patient with a 22q11.2 deletion with no
โœ McQuade, Leon; Christodoulou, John; Budarf, Marcia; Sachdev, Rani; Wilson, Mered ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 39 KB ๐Ÿ‘ 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