Case – Severely oligozoospermic patient with both mosaic Klinefelter syndrome and a complete AZFc Y chromosome microdeletion

A Rare Case of Klinefelter Syndrome Patient with Quintuple Mosaic Karyotype, Diagnosed by GTG-Banding and FISH

Loss of the AZFc region due to a human Y-chromosome microdeletion in infertile male patients.

Infertility is a major reproductive health threat; the frequency of male infertility due to Y-chromosome microdeletions is 13-18% in the human population; these microdeletions involve recurrent loss of three non-overlapping regions designated as AZFa, AZFb and AZFc, associated with spermatogenic failure. Several contradictory reports have been published regarding deletion frequency based on seq...

Prevalence of Y chromosome deletions in a Brazilian population of nonobstructive azoospermic and severely oligozoospermic men.

We determined the prevalence of Y chromosome deletions in a population of 60 Brazilian nonobstructive azoospermic and severely oligozoospermic men. PCR-based screening of microdeletions was performed on lymphocyte DNA for the presence of 14 sequence-tagged sites (STS) located in the azoospermic factor (AZF) on the Yq chromosome. All STS were amplified efficiently in samples from 12 fertile men ...

a rare case of klinefelter syndrome patient with quintuple mosaic karyotype, diagnosed by gtg-banding and fish

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Extra X Chromosome in Mosaic Klinefelter Syndrome Is Associated with a Hematologic Malignancy

Klinefelter syndrome (KS), with an incidence of 1 in 600 male newborns, is the most common type of X chromosome aneuploidy. Individuals with KS are characterized by tall stature, decreased secondary sexual characteristics, small testicles, gynecomastia, and infertility. About 80% of patients have the karyotype 47,XXY [1]. An extra X chromosome as a sole acquired abnormality has also been report...