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Characterization of the first adult de novo case of 46,X,der(Y)t(X;Y)(p22.3;q11.2)

✍ Scribed by Nenad Bukvic; Carla Cesarano; Caterina Ceccarini; Marianna Bruno; Maria Rosaria Lipsi; Maria Grazia Gallicchio; Maria Assunta Carboni; Lucia Valente; Giulia Cotoia; Raffaele Antonetti

Book ID
119241470
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
839 KB
Volume
513
Category
Article
ISSN
0378-1119

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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