A girl with an end-to-end fusion of two X'S.
An abnormal large chromosome was seen in the karyotype of a 3-year-old girl with features of Turner's syndrome: i.e., short stature, cubitus valgus, coarctation of aorta. With the banding technics this abnormal chromosome appears to be the result of a fusion of two X chromosomes, short arm-to-short arm. This chromosome has two regions with C-heterochromatin and is late replicating.
D002675:Child, Preschool; D005260:Female; D006570:Heterochromatin; D006801:Humans; D007621:Karyotyping; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*; D014424:Turner Syndrome / Q000175:diagnosis; D014960:X Chromosome
D006570:Heterochromatin