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  Česky / Czech version Čas. Lék. čes., 142, 2003, No. 11, pp. 670–675.
 
Microdeletions of the Y Chromosome in Czech Males with Serious Reproductive Disorders 
Machatková M. , Krebsová A., Smetanová I., Matějčková M. ,Vilímová Š., 1 Sobek A., Macek M. Sr. 

Ústav biologie a lékařské genetiky 2. LF UK a FNM, Praha Fertimed, Olomouc
 


Summary:

       Background. The Y chromosome microdeletions belong to the frequent genetical causes of male infertility. The aim of our studywas to introduce reliablemolecular genetic diagnosis of Ychromosomal microdeletions and to determine the prevalence of Y chromosomal microdeletions in Czech males with serious reproductive disorders. Methods and Results. The Ychromosomemicrodeletions were screened in 198Czech menwith serious reproductive disorders with decreased sperm count. The Y chromosome microdeletions were disclosed in 8/198 (4.0 %) examined males. The AZFc deletion type was revealed in 62,5 % (5/8) and the combined AZFc+b microdeletion in 37,5 % (3/8) of cases. Neither isolated AZFb nor AZFa microdeletion were found in any subject of the investigated group. Conclusions. Incidence of individual types of Y chromosomal microdeletions in Czech males with serious reproductive disorders was assessed. The standardisedmolecular genetic diagnosis ofYchromosomalmicrodeletions was introduced into the practice.

        Key words: male infertility, Y chromosome microdeletions, AZF region, azoospermia, oligozoospermia.
       

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