Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene.

@article{Bedeschi2008AssociationOS,
  title={Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene.},
  author={Maria F Bedeschi and Antonio Novelli and Laura Bernardini and Cecilia Parazzini and Vera Bianchi and B{\'a}rbara Valad{\~a}o L. T{\^o}rres and Federica Natacci and Maria Grazia Giuffrida and Paola Ficarazzi and Bruno Dallapiccola and Faustina Lalatta},
  journal={American journal of medical genetics. Part A},
  year={2008},
  volume={146A 13},
  pages={1718-24}
}
OPHN1 mutations cause a syndromic form of mental retardation (MR) characterized by cerebellar hypoplasia, early hypotonia, motor and speech delay, with occasional seizures and strabismus. Here we report on a familial chromosome duplication spanning about 800 Kb of Xq12q13.1, associated with MR and a distinctive phenotype in the affected male, but not in his heterozygous mother. The parents were healthy and non-consanguineous with a history of three pregnancies. The first resulted in the birth… CONTINUE READING