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


Caglayan A. O. , Engelen J. J. M. , Ghesquiere S., Alofs M., SAATÇİ Ç. , Dunbar M.

GENETIC COUNSELING, cilt.20, ss.333-340, 2009 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 20 Konu: 4
  • Basım Tarihi: 2009
  • Dergi Adı: GENETIC COUNSELING
  • Sayfa Sayısı: ss.333-340

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.