Different Chromosome Y Abnormalities in Turner Syndrome
Küçük Resim Yok
Tarih
2001
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
MEDECINE ET HYGIENE
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Different Chromosome Y Abnormalities in Turner Syndrome: A 17-year-old phenotypically female girl was referred for evaluation because of short stature and primary amenorrhea. Cytogenetic analysis showed a mosaic 46,XY/45,X/47,XYY/46,X,idic(Yq)/47,XY,idic(Yq)/48,XXY,idic(Yq)/46,X,t(C:Y) karyotype. Conventional cytogenetic results were supplemented with fluorescence in situ hybridization (FISH) techniques to ensure a better characterization of abnormalities. By using FISH, a supernumerary marker chromosome derived from chromosome Y which could not be detected by conventional cytogenetics was revealed. Furthermore, additional abnormalities and their frequencies were highlighted by the application of DNA probes specific for X and Y chromosomes. Thus, FISH proved useful in determining low frequency cell lines which would need analysis of a large number of good quality metaphase spreads by conventional cytogenetic techniques; it helped in Identifying the nature and the origin of unknown markers and rearrangements which have important implication in sexual differentiation and development of gonadal tumours.
Açıklama
Anahtar Kelimeler
Turner Syndrome, Idic(Y), Mosaic 45,X, FISH
Kaynak
Genetic Counseling
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
12
Sayı
3
Künye
Bağcı, G., Acar, H., Tomruk, H., (2001). Different Chromosome Y Abnormalities in Turner Syndrome. Genetic Counseling, 12(3), 255-261.
