Objective: To investigate the familial cytomolecular genetics of an infertile male.
Methods: We analyzed the clinical phenotypes and karyotypes of three males from the family of an infertile man, detected the sequence-tagged sites (STS) in the AZF deletions of the Y chromosome by multiplex polymerase chain reaction (PCR), and identified the target genes by multiplex ligation-dependent probe amplification (MLPA).
Results: The karyotypes of the proband and his brother were 46, XY, inv (19) (p13.3q13.1) and that of his father was 46, XY. The three males were all carriers of AZFc deletion of the Y chromosome, and all found with the same reduction of the gene copy number in the AZFb and AZFc regions.
Conclusions: Combined use of karyotype analysis, Y chromosome STS PCR, and MLPA revealed the genetic causes of the male infertile family.
Keywords: azoospermia factor gene; inversion of chromosome19; micro-deletion; severe oligozoospermia; Y chromosome.