Inv(10) in a patient with hypogonadotropic hypogonadism

• Authors: Z. Helszer , J. Lach , J. Nowacka , M. Constantinou , B. Kaluzewski
• Languages of publication: 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.

Keywords

EN

HYPOGONADOTROPIC HYPOGONADISM

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2003
• Volume: 44
• Issue: 2
• Pages: 225-229

Contributors

author

Z. Helszer

author

J. Lach

author

J. Nowacka

author

M. Constantinou

author

B. Kaluzewski

• Document Type: SHORT COMMUNICA
• Publication order reference: Z. Helszer, Department of Medical Genetics, Medical University of Lodz, Sterlinga 1/3, 91- 425 Lodz, Poland