Mosaic 45,x/47,xy,+18.
A poorly developed female infant with buphthalmia, Turner phenotype, and mental retardation is described. Blood culture revealed a 45,X/47,XY,+18 chromosomal mosaicism; fibroblast culture showed only 45,X cells. The baby was dead at 11 months. Post mortem examination exhibited an ovarian agenesis and a calcified aortic stenosis.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D005260:Female; D006801:Humans; D006871:Hydrophthalmos / Q000175:diagnosis; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis; D007621:Karyotyping; D009030:Mosaicism; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*; D014424:Turner Syndrome / Q000175:diagnosis