Symptoms of Turner's syndrome and interstitial heterochromatin in i(Xq).
A girl is presented with "isochromosome" X mosaicism, 45,X/46,X,i(Xq)/47,X,i(Xq),i(Xq). The "isochromosome" had an unusual extra band close to the centromere on one arm. The patient had some signs of Turner's syndrome, myopia and optic nerve atrophy.
D002648:Child; D002869:Chromosome Aberrations; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006570:Heterochromatin; D006801:Humans; D007621:Karyotyping; D012730:Sex Chromosomes; D013194:Staining and Labeling; D014424:Turner Syndrome / Q000235:genetics*
D006570:Heterochromatin