A de novo X;3 translocation in Rett syndrome

Academic Article


  • Rett syndrome is a neurodegenerative disorder that occurs exclusively in females. The syndrome is sporadic in most cases with the exception of a few familial cases with an inheritance pattern through maternal lines. These observations raised the possibility that Rett syndrome may be due to an X-linked dominant mutation which is lethal in the male. To evaluate this hypothesis, we have systematically performed high-resolution chromosome analysis on 28 patients with Rett syndrome searching for deletions and/or translocations. In one patient, a de novo balanced translocation was observed with the chromosome constitution of 46,X,t(X;3)(p22.11;q13.31). This finding supports the hypothesis of an X-linked dominant mutation and suggests that the Rett gene might map to distal Xp21 or proximal Xp22.
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    Digital Object Identifier (doi)

    Author List

  • Zoghbi HY; Ledbetter DH; Schultz R; Percy AK; Glaze DG
  • Start Page

  • 148
  • End Page

  • 151
  • Volume

  • 35
  • Issue

  • 1