Article
Inv(10) in a patient with hypogonadotropic hypogonadism.
Journal of applied genetics - 1 Jan 2003
Helszer Zofia, Lach Joanna, Nowacka Joanna, Constantinou Maria, Kałuzewski Bogdan
Abstract excerpt
Hypogonadotropic hypogonadism (HH) was diagnosed in a 22-year-old patient with 46,XY,inv(10) karyotype. It may be associated with some gene mutations of chromosome X, (KAL-1: Kallman syndrome; and DAX-1: congenital adrenal hypoplasia), as well as of certain autosomes, including chromosome 10. This study aimed to: (1) elucidate the aetiopathogenesis of the disease in the studied case: (2) diagnose chromosome...
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