45,X/46,XY mosaicism and fragile X syndrome.
Banes
Shannon L
SL
Section of Medical Genetics and Molecular Medicine, Children's Mercy Hospitals and Clinics, Kansas City, Missouri 64108, USA.
Begleiter
Michael L
ML
Butler
Merlin G
MG
D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D016601:RNA-Binding Proteins; D012729:Sex Chromosome Aberrations
D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human