Down syndrome with XO/XX mosaicism.
A 2-month-old girl with Down syndrome was found to have 47, XX, +21/46, X, +21 mosaicism. No symptoms indicative of infantile Turner syndrome were observed.
D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D009030:Mosaicism; D012729:Sex Chromosome Aberrations; D012730:Sex Chromosomes / Q000648:ultrastructure; D014960:X Chromosome / Q000648:ultrastructure