A boy with small supernumerary marker chromosome X identified by FISH.

Koc A., Karaoguz M., Pala E., Kan D., Karaer K., Guecueyener K., ...More

Genetic counseling (Geneva, Switzerland), vol.18, no.4, pp.393-9, 2007 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 18 Issue: 4
  • Publication Date: 2007
  • Journal Name: Genetic counseling (Geneva, Switzerland)
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.393-9
  • Gazi University Affiliated: Yes

Abstract

Marker or ring X chromosomes are frequently seen in Ullrich-Turner Syndrome with 46,X,r(X) karyotype, but only 8 children were reported with an extra marker X chromosome in at least some of their cell lines, we describe a 5 years old mate patient who is mosaic (17%) for a cell line with an extra ring shaped marker X chromosome in addition to a normal 46,XY cell line.