Idiopathic thromobocytopenic purpura in two mothers of children with DiGeorge sequence: A new component manifestation of deletion 22q11?

Journal Article · Mon Apr 14 00:00:00 EDT 1997 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19970414)69:4<356::AID-AJMG4>3.0.CO;2-J· OSTI ID:539208

Levy, A; Philip, N ^[1]; Michel, G ^[2]

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1. Hopital d`Enfants de la Timone, Marseilles (France)
2. 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, Vol. 69, Issue 4; Other Information: PBD: 14 Apr 1997
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HEREDITARY DISEASES
GENETICS
PATIENTS
PHENOTYPE
IMMUNE SYSTEM DISEASES
HUMAN CHROMOSOME 22
GENETIC MAPPING
CHROMOSOMAL ABERRATIONS
DNA SEQUENCING
FLUORESCENCE
IN-SITU HYBRIDIZATION