Relationship between clinical and genetic features in "inverted duplicated chromosome 15" patients.

@article{Borgatti2001RelationshipBC,
  title={Relationship between clinical and genetic features in "inverted duplicated chromosome 15" patients.},
  author={Renato Borgatti and Paulo Piccinelli and D. Passoni and Leda Dalpr{\`a} and Monica Miozzo and Roberto Micheli and Chiara Gagliardi and Umberto Balottin},
  journal={Pediatric neurology},
  year={2001},
  volume={24 2},
  pages={111-6}
}
Inverted duplicated chromosome 15 (Inv dup [15]) syndrome is a genetic disorder characterized by psychologic or intellectual language delay; neurologic signs, such as hypotonia, ataxia, and epilepsy; mental retardation ranging from mild to severe; and facial dysmorphisms. All patients present with a psychopathologic impairment that is highly variable in severity but always classifiable as pervasive developmental disorder (PDD). Many genetic mechanisms have been hypothesized to explain the… CONTINUE READING

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