Interstitial del(13q) associated with blindness and mental retardation.
Blindness due to congenital falciform retinal folds and severe mental retardation were present in a male with an interstitial deletion, 46,XY, del(13) (q31.2q32.3).
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001766:Blindness / Q000151:congenital / Q000235:genetics*; D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002901:Chromosomes, Human, 13-15; D003878:Dermatoglyphics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male