CASE REPORT: PARTIAL TRISOMY 4q27q35 SYNDROME

Arayici S., Topcu V., Simsek G. K., Kutman G. K., Oguz S. S., Dilmen U.

GENETIC COUNSELING, cilt.25, sa.4, ss.413-416, 2014 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 25 Sayı: 4
  • Basım Tarihi: 2014
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
  • Sayfa Sayıları: ss.413-416
  • Anahtar Kelimeler: Trisomy 4q, Newborn, PARTIAL DUPLICATION, 4Q SYNDROME
  • Akdeniz Üniversitesi Adresli: Evet

Özet

Case report: partial trisomy 4q27q35 syndrome: Partial trisomy 4q is a rare chromosomal abnormality which results in variable clinical features, often including growth and developmental delay, mental retardation and dysmorphic features. We herein report a newborn with the diagnosis of partial trisomy 4q with Hirschsprung's disease who was monitored in neonatal intensive care unit. This is the first report of partial trisomy 4q27q35 with accompanying Hirschsprung's disease.