Inherited inverted duplication of X chromosome in a male: report of a patient and review of the literature.

@article{Shapira1997InheritedID,
  title={Inherited inverted duplication of X chromosome in a male: report of a patient and review of the literature.},
  author={Marina Shapira and Hanna Dar and H Bar-el and N Bar-Nitzan and Leah Even and Zvi U. Borochowitz},
  journal={American journal of medical genetics},
  year={1997},
  volume={72 4},
  pages={409-14}
}
Nineteen cases of duplication of segments of the long arm of chromosome X have been published in 13 males and in 6 females. We report an additional case of a male with growth and mental retardation, growth hormone deficiency, compensated primary hypothyroidism, distinctive anomalies of the face, hypoplastic genitalia, and hypotonia in whom inverted duplication of a segment in the long arm of X chromosome was diagnosed, 46,Y, dup (X)(q21.2q13.3), and mosaicism was demonstrated in his mother's X… CONTINUE READING