What are the other Names for this Condition? (Also known as/Synonyms)

• Chromosome Y Disorders

What are Disorders of Chromosome Y? (Definition/Background Information)

There are many disorders that are caused by abnormalities on chromosomes Y. Some are more common than others. Researchers know more about certain chromosomal disorders than others. Information is constantly being added through research, better documentation, and increased awareness.

Chromosomes are microscopic protein structures present in each cell nucleus that carry genetic information in the form of DNA (deoxyribonucleic acid). Humans have 46 chromosomes in the cell nucleus, in 23 pairs, of which one pair is named the sex chromosome. In males, it is designated XY, for chromosome X and chromosome Y; while, in females, it is designated XX, for a pair of chromosome X. The other 22 pairs of chromosomes are numbered chromosome 1 through 22.

During conception, the embryo inherits one copy of each chromosome from each parent (i.e., mother and father). Any alteration in the chromosome numbers or structure can result in mild to severe genetic abnormalities. Specialized genetic testing techniques are often required to confirm the diagnosis.

Chromosome Y Disorders are disorders involving chromosome Y. Some of the disorders include:

Y Chromosome Pericentric Inversion: Y Chromosome Pericentric Inversion refers to a genetic condition in which a portion of the Y chromosome is inverted. This inversion involves the centromere, which is the central region of the chromosome. Although this inversion does not directly cause infertility, it can potentially affect fertility by disrupting the normal pairing of the Y chromosome with the X chromosome during meiosis. This can increase the risk of chromosomal abnormalities in the sperm, which may lead to reduced fertility or an increased risk of miscarriages. Genetic counseling and assisted reproductive techniques may be considered for individuals with Y Chromosome Pericentric Inversion who are experiencing infertility.

Y Chromosome Infertility: Y Chromosome Infertility, also known as Male Infertility Y Chromosome (MIYC), is a condition where genetic alterations on the Y chromosome contribute to male infertility. Various genetic abnormalities on the Y chromosome, such as deletions or mutations in specific genes, can disrupt the normal development and function of the testes, impairing sperm production and quality. This can result in reduced fertility or complete infertility. Genetic testing and counseling are crucial in diagnosing and understanding the underlying cause of Y Chromosome Infertility. Treatment options may include assisted reproductive techniques, such as intracytoplasmic sperm injection (ICSI), to overcome fertility challenges associated with this condition.

This article is a resource with links to other more specific disorders. Information on each Chromosome Y Disorder may be viewed by clicking on the respective subtypes (above).

Information to join DoveMed’s patient forum called MyCIrcles to learn and manage the condition is also included. We are adding more information to this page periodically. Please bookmark this page for future reference and visit for updated content.

You can join Chromosome Disorders MyCircles patient forum by visiting here: https://www.dovemed.com/mycircles/circles/all