A boy with small supernumerary marker chromosome X identified by FISH
GENETIC COUNSELING, cilt.18, sa.4, ss.393-399, 2007 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 18 Sayı: 4
- Basım Tarihi: 2007
- Dergi Adı: GENETIC COUNSELING
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.393-399
- Anahtar Kelimeler: marker X chromosome, ring X chromosome, FISH, XIST
- Dokuz Eylül Üniversitesi Adresli: Hayır
Özet
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.