A Case of Ambiguous Genitalia Presenting with a 45,x/46,xr(Y)(P11.2;q11.23)/47,x,idic(Y)(P11.2),idic(Y)(P11.2) Karyotype
Küçük Resim Yok
Tarih
2001
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
An infant with ambiguous genitalia was found to have a karyotype 45,X/46,X,r(Y)(p11.2;q11.23)/47,X, idic(Y)(p11.2),idic(Y)(p11.2) using G-banding, C-banding and FISH. Examination of the genitalia revealed a phallus measuring 1.5 cm in length and 0.5 cm wide with perineal orifice. Subtle phenotypic features consistent with Turner syndrome were not present. Genital ultrasonography revealed the presence of an infantile uterus. Endoscopy of the vagina, uterus and cervix appeared normal.
Açıklama
Anahtar Kelimeler
Ambiguous Genitalia, Fish, Chromosomal Mosaicism
Kaynak
Annales De Genetique
WoS Q Değeri
Q4
Scopus Q Değeri
N/A
Cilt
44
Sayı
1
Künye
Dündar, M., Lowther, G., Acar, H., Kurtoğlu, S., Demiryılmaz, F., Küçükaydın, M., (2001). A Case of Ambiguous Genitalia Presenting with a 45,x/46,xr(Y)(P11.2;q11.23)/47,x,idic(Y)(P11.2),idic(Y)(P11.2) Karyotype. Annales De Genetique, 44(1), 5-8.
DOI: 10.1016/S0003-3995(00)01034-0
