Idiopathic thrombocytopenic purpura in two mothers of children with DiGeorge sequence: A new component manifestation of deletion 22q11?
✍ Scribed by Lévy, A.; Michel, G.; Lemerrer, M.; Philip, N.
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 165 KB
- Volume
- 69
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
✦ Synopsis
The phenotypic spectrum caused by the microdeletion of chromosome 22q11 region is known to be variable. Nearly all patients with DiGeorge sequence (DGS) and approximately 60% of patients with velocardiofacial syndrome exhibit the deletion. Recent papers have reported various congenital defects in patients with 22q11 deletions. Conversely, some patients have minimal clinical expression. Ten to 25% of parents of patients with DGS exhibit the deletion and are nearly asymptomatic. Two female patients carrying a 22q11 microdeletion and presenting with idiopathic thrombocytopenic purpura are reported. Both had children with typical manifestations of DGS. Am.