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Fig. 3 | Molecular Cytogenetics

Fig. 3

From: Delineation of an inverted tandem Xq23-26.3 duplication in a female featuring extremely short stature and mild mental deficiency

Fig. 3

CMA and OGM results of the X chromosome A CMA result of the X chromosome. The patient has a 20.45 Mb duplication at Xq23-q26.3 (hg19 chrX: 114,622,584–135,068,006) (represented by the blue bar) containing 121 protein-coding genes. B OGM result of the patient’s X chromosome. The resulting map of the X chromosome copy number showing a 19.9 Mb duplication (copy number = 3) at Xq23q26.3 (hg19 chrX: 114,624,594–134,525,997) (blue shaded area), which has encompassed 107 protein-coding genes). The repeat region at Xq23-q26.3 showed a pattern of reverse tandem repeats. Compared with the reference, the repeat sequence [B(−)]was in reverse tandem arrangement with the original sequence[B(+)]

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Molecular Cytogenetics

ISSN: 1755-8166