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
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Date
2001
Journal Title
Journal ISSN
Volume Title
Publisher
EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER
Access Rights
info:eu-repo/semantics/closedAccess
Abstract
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.
Description
Keywords
Ambiguous Genitalia, Fish, Chromosomal Mosaicism
Journal or Series
Annales De Genetique
WoS Q Value
Q4
Scopus Q Value
N/A
Volume
44
Issue
1
Citation
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
