Inv(10) in a patient with hypogonadotropic hypogonadism

J Appl Genet. 2003;44(2):225-9.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Aberrations
  • Chromosome Inversion*
  • Chromosomes, Human, Pair 10*
  • Humans
  • Hypogonadism / genetics*
  • In Situ Hybridization, Fluorescence
  • Male
  • Mutation*
  • Polymorphism, Single-Stranded Conformational