Duplication X

Birth of a healthy child by a woman with inherited Xq duplications who had experienced stillbirths

Y. Dong, Chen, S. C., Yu, X. W., Fadlalla, E., Jin, F., and Liu, R. Z., Birth of a healthy child by a woman with inherited Xq duplications who had experienced stillbirths, vol. 13, pp. 4573-4578, 2014.

A 23-year-old woman who had experienced repeated stillbirths, was found to carry an additional segment on the long arm of the X chromosome. Array comparative genomic hybridization (aCGH) confirmed the origin of the 2 duplications (about 17.11 Mb). Thus, her karyotype was 46, X, dup (X) (q13.2-q21.1), dup(X) (q21.32-q22.1). We demonstrate that aCGH is a useful complementary tool to cytogenetic analysis for accurately determining banding. To our knowledge, this is the first case with normal apparently phenotype who inherited 2 duplications on Xq.

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