Correlation of clinical phenotype with a pericentric inversion of chromosome 9 and genetic counseling

DEMİRHAN O., PAZARBAŞI A., Suleymanova-Karahan D., Tanriverdi N., KILINÇ Y.

SAUDI MEDICAL JOURNAL, cilt.29, sa.7, ss.946-951, 2008 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 29 Sayı: 7
  • Basım Tarihi: 2008
  • Dergi Adı: SAUDI MEDICAL JOURNAL
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.946-951
  • Çukurova Üniversitesi Adresli: Evet

Özet

Objectives: To describe the history of 157 carriers of pericentric inversions on chromosome 9 [inv(9)] with karyotype analyses and evaluate the significance of these findings. Methods: We studied the incidence, clinical significance, and genetic counseling of inv(9) (p11;q12), (p11;q13), and (p11;q21) patients who were referred to our laboratory from various clinics of the Medical Faculty, Cukurova University, Adana, Turkey retrospectively from 157 cases of 15528 cytogenetic analyses collected between May 1993 and February 2007.