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A 7q11.23 microduplication patient with cerebral palsy and facial dysmorphism

A Değerliyurt1, S Ceylaner, H Ozdağ

  • 1Department of Pediatric Neurology, Ankara Children's Health and Diseases, Hematology-Oncology Hospital, Ankara, Turkey.

Genetic Counseling (Geneva, Switzerland)
|August 11, 2012
PubMed

Insights

A rare 7q11.23 microduplication was identified in a child with epilepsy and cerebral palsy. Atypical facial features can be an early indicator for this genetic condition.

Area of Science:

  • Genetics
  • Pediatric Neurology
  • Clinical Dysmorphology

Background:

  • 7q11.23 microduplication syndrome is a rare genetic disorder.
  • Individuals often present with developmental delays, intellectual disability, and characteristic facial features.
  • Associated conditions can include epilepsy and cerebral palsy.

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