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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

✍ Scribed by Munis Dundar; Gordon Lowther; Hasan Acar; Selim Kurtoglu; Fatma Demiryilmaz; Mustafa Kucukaydin


Book ID
113987225
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
240 KB
Volume
44
Category
Article
ISSN
0003-3995

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## Abstract We report on a 13‐year‐old female with short stature, minimal axillary and pubic hair, no breast development, absence of uterus and ovaries, with the following karyotype on lymphocyte cultures: 46,X,t(Y;4)(q11.2;p16)[40]/45,X,der(4)t(Y;4)(q11.2;p16)[10]. Loss of the small derivative Y c