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

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 fe...

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Bibliographic Details
Published in:Annales de génétique 2001, Vol.44 (1), p.5-8
Main Authors: Dundar, Munis, Lowther, Gordon, Acar, Hasan, Kurtoglu, Selim, Demiryilmaz, Fatma, Kucukaydin, Mustafa
Format: Article
Language:English
Subjects:
Adolescent
Adult
ambiguous genitalia
Biological and medical sciences
chromosomal mosaicism
Chromosome Banding
Clitoris - surgery
Consanguinity
Female
FISH
Genitalia, Female - anatomy & histology
Genitalia, Female - diagnostic imaging
Gynecology. Andrology. Obstetrics
Hernia, Inguinal - surgery
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Karyotyping
Male
Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance
Medical sciences
Sex Chromosome Aberrations - genetics
Tropical medicine
Ultrasonography
X Chromosome
Y Chromosome
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Summary: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.
ISSN:0003-3995
DOI:10.1016/S0003-3995(00)01034-0