Inv(10) in a patient with hypogonadotropic hypogonadism

• Autorzy: Z. Helszer , J. Lach , J. Nowacka , M. Constantinou , B. Kaluzewski
• Języki publikacji: EN

Abstrakty

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.

Słowa kluczowe

EN

HYPOGONADOTROPIC HYPOGONADISM

• Czasopismo: Journal of Applied Genetics
• Rocznik: 2003
• Tom: 44
• Numer: 2
• Strony: 225-229

Twórcy

autor

Z. Helszer

autor

J. Lach

autor

J. Nowacka

autor

M. Constantinou

autor

B. Kaluzewski

• Typ dokumentu: SHORT COMMUNICA
• Bibliografia: Z. Helszer, Department of Medical Genetics, Medical University of Lodz, Sterlinga 1/3, 91- 425 Lodz, Poland