Full-text resources of PSJD and other databases are now available in the new Library of Science.
Visit https://bibliotekanauki.pl
Preferences help
Polish version English version Language
enabled [disable] Abstract
Number of results

Results found: 1

Number of results on page
first rewind previous Page / 1 next fast forward last

Search results

Search:
in the keywords:  HYPOGONADOTROPIC HYPOGONADISM
help Sort By:

help Limit search:
first rewind previous Page / 1 next fast forward last
1

Inv(10) in a patient with hypogonadotropic hypogonadism

100%
Helszer Z., Lach J., Nowacka J., Constantinou M., Kaluzewski B.
Journal of Applied Genetics
|
2003
|
vol. 44
|
issue 2
225-229
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.
first rewind previous Page / 1 next fast forward last
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.