Idiopathic thromobocytopenic purpura in two mothers of children with DiGeorge sequence: A new component manifestation of deletion 22q11?
Journal Article
·
· American Journal of Medical Genetics
- Hopital d`Enfants de la Timone, Marseilles (France)
- Hopital d`Enfants de la Timone, Marseilles (France); and others
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. 12 refs., 4 figs., 1 tab.
- OSTI ID:
- 539208
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 69; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
Similar Records
Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions
Minimum prevalence of chromosome 22q11 deletions
Velo-Cardio-Facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region
Journal Article
·
Sat Oct 01 00:00:00 EDT 1994
· American Journal of Medical Genetics
·
OSTI ID:62028
Minimum prevalence of chromosome 22q11 deletions
Journal Article
·
Thu Sep 01 00:00:00 EDT 1994
· American Journal of Human Genetics
·
OSTI ID:133955
Velo-Cardio-Facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region
Journal Article
·
Sat Oct 01 00:00:00 EDT 1994
· American Journal of Medical Genetics
·
OSTI ID:62027