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2003 | 44 | 2 | 225-229
Article title

Inv(10) in a patient with hypogonadotropic hypogonadism

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EN
Abstracts
EN
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 aberrations as accurately as possible: and (3) determine if the observed clinical picture can be referred to the diagnosed chromosomal aberration or it is a mere coincidence. The FISH technique, with the use of non-commercial DNA probes, was applied for a precise description of chromosome breaking points. The application of FISH enabled karyotype description: 46,XY, inv(10)(p15.2q11.22).ish inv(10)(p15.2q21.3)(p15?3)(q21?3)(p15conq21?2). The SSCP method revealed no mutation within the DAX-1 gene and no deletion in the KAL-1 gene.
Discipline
Year
Volume
44
Issue
2
Pages
225-229
Physical description
References
Document Type
SHORT COMMUNICA
Publication order reference
Z. Helszer, Department of Medical Genetics, Medical University of Lodz, Sterlinga 1/3, 91- 425 Lodz, Poland
YADDA identifier
bwmeta1.element.element-from-psjc-94cb72f7-fb29-39b0-a1e5-9451d6b71117
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