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Interstitial deletion of 22q11 in DiGeorge syndrome detected by high resolution and molecular analysis

✍ Scribed by U. C. Franke; P. J. Scambler; C. Löffler; P. Löns; F. Hanefeld; B. Zoll; I. Hansman


Book ID
115091601
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
605 KB
Volume
46
Category
Article
ISSN
0009-9163

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DiGeorge syndrome in humans is characterized by immunodeficiency, heart defects, mental retardation and facial dysmorphism; cytogenetic analysis has shown that deletions at 22q11 occur in approximately 25% of cases. To generate DNA markers from this region, we have microdissected and microcloned ban

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Five patients with interstitial deletion 13q are reported. High-resolution chromosome banding established the diagnosis in two cases and stated the exact breakpoints in three remaining cases. All parents had normal chromosomes. An unequal and so far unexplained sex ratio of previously published and