The Y chromosome is important for male development as it contains the sex determining gene SRY and many spermatogenesis genes. Structural abnormalities of the Y chromosome include rings, deletions, inversions, and dicentrics. 4 These types of abnormalities are common in infertile males (1.5%), especially those with azoospermia. 6 However, such rearrangements are unstable and an additional 45,X ...

It has been established that the Y chromosome carries genes required for spermatogenesis and male fertility. For many decades worldwide screening for gene identification has been conducted in research laboratories. However, it has been a difficult process in identifying such genes (i.e. causative mutations) which could explain the phenotypic variation and could be potentially used as markers fo...

The Y chromosome is important for male development as it contains the sex determining gene SRY and many spermatogenesis genes. Structural abnormalities of the Y chromosome include rings, deletions, inversions, and dicentrics. 4 These types of abnormalities are common in infertile males (1.5%), especially those with azoospermia. 6 However, such rearrangements are unstable and an additional 45,X ...

The DAZ gene, a contributing factor in infertility, lies on the human Y chromosome's AZFc region, whose deletion is a common cause of spermatogenic failure. Y chromosome binary polymorphisms on the non-recombining Y (NRY) region, believed to be a single occurrence on an evolutionary scale, were typed in a sample of fertile and infertile men with known DAZ backgrounds. The Y single-nucleotide po...

Turner Syndrome is one of the most common chromosomal aneuploidy seen in humans with an incidence of about 1: 2500 newborn females. Approximately 60% patients with Turner syndrome have 45, X karyotype while others show X chromosome abnormalities like deletions of long arm or short arm, isochromosome or ring chromosome. About 6-9% cases also show presence of Y chromosome or Y derived sequences. ...

Silene latifolia is a well-studied model system for plant XY sex determination. Three maleness factors are thought to function on the Y chromosome, gynoecium suppression factor (GSF), stamen-promoting factor (SPF), and male fertility factor (MFF), and their deletions result in hermaphrodites, anther defects, and pollen defects, respectively. Although a framework map of the Y chromosome exists, ...

We analyzed the AZFc region of the Y-chromosome for complete (b2/b4) and distinct partial deletions (gr/gr, b1/b3, b2/b3) in 822 infertile and 225 proven fertile men. We observed complete AZFc deletions in 0.97% and partial deletions in 6.20% of the cases. Among partial deletions, the frequency of gr/gr deletions was the highest (5.84%). The comparison of partial deletion data between cases and...

LEARNING OBJECTIVES 1. The ART physician should understand the structure of the Y chromosome, why it harbors genes required for spermatogenesis, and why it so frequently has deletions which result in azoospermia and severe oligospermia. 2. The ART physician should understand the pitfalls in interpreting standard Y deletion testing, and be able to identify those STS markers which are robust and ...