FLUORESCENCE IN SITU HYBRIDIZATION AND SINGLE NUCLEOTIDE POLYMORPHISM OF A NEW CASE WITH INV DUP DEL(8p)

ÇAĞLAYAN A. O., Engelen J. J. M., Ghesquiere S., Alofs M., Saatci C., Dunbar M.

GENETIC COUNSELING, cilt.20, sa.4, ss.333-340, 2009 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 20 Sayı: 4
  • Basım Tarihi: 2009
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
  • Sayfa Sayıları: ss.333-340
  • Anahtar Kelimeler: Inv dup del(8p), FISH, SNP-array analysis, 8P
  • Dokuz Eylül Üniversitesi Adresli: Hayır

Özet

Fluorescence h? Situ Hybridization and single, nucleotide polymorphism of a new case with inv dup del(8p): Inverted duplication deletion of 8p [inv dup del(8p)] is a complex chromosome rearrangement leading among others to deletion of the chromosome region distal to the duplication in 8p. A new case with an inverted duplication deletion of 8p and the results of SNP-array analysis and fluorescence in situ hybridization (FISH) are reported here. Our results are in concordance with earlier reported inv dup del(8p) cases.