title: Inv(10) in a patient with hypogonadotropic hypogonadism.
abstract: 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)(p15x3)(q21x3)(p15conq21x2). The SSCP method revealed no mutation within the DAX-1 gene and no deletion in the KAL-1 gene.
authors.affiliation: Department of Medical Genetics, Medical University of Łódź, Sterlinga 1/3, 91- 425 Łódź, Poland. genetyka@csk
authors.forename: Zofia
authors.initials: Z
authors.lastname: Helszer
authors.forename: Joanna
authors.initials: J
authors.lastname: Lach
authors.forename: Joanna
authors.initials: J
authors.lastname: Nowacka
authors.forename: Maria
authors.initials: M
authors.lastname: Constantinou
authors.forename: Bogdan
authors.initials: B
authors.lastname: Kałuzewski
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D007446:Chromosome Inversion; D002879:Chromosomes, Human, Pair 10; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational