Non-fluorescent Y chromosome in a male infant with Turner's symptoms and XO/XY mosaicism.
A 45, X/46,XY mosaicism was found in a male infant with stigmata of Turner's syndrome but normal male external genitalia. In contrast to the Y chromosome of his father, the Y chromosome of the patient does not display either the characteristic brilliant fluorescence or the typical dark heterochromatin staining of the distal long arm. Furthermore, DNA replication in the abnormal Y chromosome was shown to be premature. Mechanisms leading to the observed abnormalities are discussed.
D004261:DNA Replication; D003878:Dermatoglyphics; D005453:Fluorescence; D006570:Heterochromatin; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D012730:Sex Chromosomes; D013194:Staining and Labeling; D014424:Turner Syndrome / Q000235:genetics*
D006570:Heterochromatin