Microdeletions of the Y Chromosome in Czech Males with Serious
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
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.
male infertility, Y chromosome microdeletions, AZF region, azoospermia, oligozoospermia.