The importance of excluding 13q deletion mosaicism in the diagnosis of retinoblastoma associated with dysmorphic features.
Van Esch
H
H
Center for Human Genetics, University of Leuven, Leuven, Belgium.
Aerssens
P
P
Fryns
J P
JP
D002675:Child, Preschool; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009030:Mosaicism; D012008:Recurrence; D019572:Retinal Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D012175:Retinoblastoma / Q000175:diagnosis* / Q000235:genetics*; D016160:Retinoblastoma Protein / Q000235:genetics
D016160:Retinoblastoma Protein