A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism.

@article{Misceo2011ATB,
  title={A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism.},
  author={Doriana Misceo and Olaug K. R\odningen and Tuva Bar\oy and Hanne S\ormo Sorte and Jan Roar Mellembakken and Petter Str\omme and Madeleine Fannemel and Eirik Frengen},
  journal={American journal of medical genetics. Part A},
  year={2011},
  volume={155A 2},
  pages={403-8}
}
Chromosome 22q13 monosomy has been described as a contiguous gene syndrome. Localized in the critical region, SHANK3 is likely to play a key role in the expression of the clinical phenotype. SHANK3 mutations have also been reported in autistic patients without a syndromic phenotype. We report on a 20-year-old woman with mental retardation carrying a de novo translocation between chromosome Xq21.33 and 22q13.33, associated with a duplication on Xq21.33 and deletion on 22q13.33. As a child her… CONTINUE READING

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