Fig. 4

Cytogenetic and CMA results of patient 2. a: The results of the G-banded karyogram (550 bands) of patient 2(a derivative X chromosome is indicated by an arrow); b: The result of the G-banded karyogram (550 bands) of the patient’s father: a normal male karyotype; c: Fragment of C-banded metaphase spread of patient 2 (photomicrography), showing a large heterochromatin region at the end of the long arm of derivative X chromosome; d: patient 2’ X chromosome (left) and her father’s Y chromosome (right) comparison chart, the results show that the Xq21.2 (of der(X)) unidentified source segment of the band are more consistent with the father’s Yq11.2 band; e, f: CMA results show that a large 69.689 Mb deletion of the long arm of the X chromosome(red box in e), and a partial duplication of the long arm of the Y chromosome (red box in f), as well as multiple regions with AOH (red regions in the figure)