title: Fragile X syndrome and 22q11.2 microdeletion in the same sibship.
abstract: We present a family with an unusual association of two frequent genetic disorders, 22q11.2 microdeletion and fragile X syndrome, originating from the same parent. Our observation confirms the wide intrafamilial clinical variability of the 22q11.2 microdeletion and illustrates the difficulty of the clinical diagnosis for the fragile X syndrome in affected females.
authors.affiliation: Département de Génétique Médicale, H pital de la Timone-Enfants, Marseille, France. cmissirian@ap-hm.fr
authors.forename: C
authors.initials: C
authors.lastname: Missirian
authors.forename: A
authors.initials: A
authors.lastname: Moncla
authors.forename: M A
authors.initials: MA
authors.lastname: Voelckel
authors.forename: V
authors.initials: V
authors.lastname: Ravix
authors.forename: N
authors.initials: N
authors.lastname: Philip
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics; D009679:Nuclear Family; D010375:Pedigree; D011247:Pregnancy; D013771:Tetralogy of Fallot / Q000235:genetics