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

Koc, A.; Karaoguz, MERAL; Pala, E.; Kan, D.; Karaer, K.; Guecueyener, K.; PERÇİN, FERDA

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

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

Genetic counseling (Geneva, Switzerland), cilt.18, sa.4, ss.393-9, 2007 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 18 Sayı: 4
Basım Tarihi: 2007
Dergi Adı: Genetic counseling (Geneva, Switzerland)
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.393-9
Gazi Üniversitesi Adresli: Evet

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.