A familial Xp+ chromosome, dup (Xq26.3-->qter).

  title={A familial Xp+ chromosome, dup (Xq26.3-->qter).},
  author={Ana I V{\'a}squez and Horacio Rivera and Leonardo Bobadilla and John Anthony Crolla},
  journal={Journal of medical genetics},
  volume={32 11},
A maternally transmitted Xp+ chromosome was associated with an abnormal phenotype, including developmental delay and short stature, in two male cousins and their 12 year old aunt. The respective mothers were not mentally impaired but had short stature. The G banding pattern identified the extra chromosome segment as a repeat of Xq26.3-->qter attached to an apparently intact Xp22.3 sub-band, so the Xp+ chromosome may be described as rea(X)(Xqter-->p22.3::Xq26.3-->Xqter). The rearranged… CONTINUE READING

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