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

Deǧerliyurt A., CEYLANER S., ÖZDAĞ SEVGİLİ H.

Genetic Counseling, cilt.23, sa.2, ss.263-267, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 23 Sayı: 2
  • Basım Tarihi: 2012
  • Dergi Adı: Genetic Counseling
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.263-267
  • Anahtar Kelimeler: 7q11.23 microduplication, facial dysmorphism, LANGUAGE DELAY, DUPLICATION, AUTISM, REGION
  • Lokman Hekim Üniversitesi Adresli: Hayır

Özet

We report an 11-year-old female with 7q11.23 microduplication detected by an array-CGH test performed because of her atypical facial appearance while being followed-up with diagnoses of epilepsy and cerebral palsy at the pediatric neurology department since she was 3 months old. We emphasize that the facial phenotype by itself should arise suspicion of the 7q11.23 duplication.