De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation.

@article{Velinov2009Denovo2M,
  title={De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation.},
  author={Milen T Velinov and Antonio Novelli and Hong Gu and Michael D. Fenko and Natalia Dolzhanskaya and Laura Bernardini and Anna Capalbo and Bruno Dallapiccola and Edmund C Jenkins and William Ted Brown},
  journal={Clinical dysmorphology},
  year={2009},
  volume={18 1},
  pages={
          9-12
        }
}
Distal Xq disomy in males results in characteristic phenotypes that typically include mental retardation, microcephaly, prominent hypotonia and hypogonadism. The 8-year-old male patient reported here presented with mental retardation, prominent ears, abnormally wide and unstable gait and flat occiput. He did not have microcephaly or hypogonadism. Subtelomeric multi-fluorescence in-situ hybridization analysis identified a duplicated terminal portion of chromosome Xq/Yq located distally on Yp… CONTINUE READING
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