Fragile X syndrome and 22q11.2 microdeletion in the same sibship.
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.
Missirian
C
C
Département de Génétique Médicale, H pital de la Timone-Enfants, Marseille, France. cmissirian@ap-hm.fr
Moncla
A
A
Voelckel
M A
MA
Ravix
V
V
Philip
N
N
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