title: Idiopathic thrombocytopenic purpura in two mothers of children with DiGeorge sequence: a new component manifestation of deletion 22q11?
abstract: 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.
authors.affiliation: Department of Genetics, Hopital d'Enfants de la Timone, Marseilles, France.
authors.forename: A
authors.initials: A
authors.lastname: Lévy
authors.forename: G
authors.initials: G
authors.lastname: Michel
authors.forename: M
authors.initials: M
authors.lastname: Lemerrer
authors.forename: N
authors.initials: N
authors.lastname: Philip
mesh_terms: D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009035:Mothers; D016553:Purpura, Thrombocytopenic, Idiopathic / Q000235:genetics*