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Y chromosome

Y chromosome is one of the two sex chromosomes; the other one being X chromosome determines male sex characteristics.

The sex chromosomes form one of the 23 pairs of human chromosomes in each cell. The Y chromosome spans more than 59 million building blocks of DNA (base pairs) and represents almost 2 percent of the total DNA in cells.

Each person normally has one pair of sex chromosomes in each cell. The Y chromosome is present in males, who have one X and one Y chromosome, while females have two X chromosomes.

Genetic research

The Y chromosome likely contains 50 to 60 genes that provide instructions for making proteins. Because only males have the Y chromosome, the genes on this chromosome tend to be involved in male sex determination and development.

Male sex determination

Sex is determined by the SRY gene, which is responsible for the development of a fetus into a male. Other genes on the Y chromosome are important for enabling men to father biological children (male fertility).

Pseudoautosomal regions

Many genes are unique to the Y chromosome, but genes in areas known as pseudoautosomal regions are present on both sex chromosomes. As a result, men and women each have two functional copies of these genes. Many genes in the pseudoautosomal regions are essential for normal development.

Conditions related to abnormality in Y chromosome

  • 46,XX testicular disorder of sex development
  • 47,XYY syndrome
  • 48,XXYY syndrome
  • Y chromosome infertility
  • Other chromosomal conditions

Genetic terms glossaries.

Glossary of Genetics | Glossary of genetic testing terms | Dictionary of genetics | Rare diseases

Common genetic disorders This list of genetic, orphan and rare diseases is provided for informational purposes only and is not comprehensive.

Common genetic disorders list A-Z Common genetic disorders list A-Z
* achondroplasia * alpha-1 antitrypsin deficiency
* antiphospholipid syndrome * attention deficit hyperactivity disorder
* autism * autosomal dominant polycystic kidney disease
* breast cancer * charcot-marie-tooth disease
* colon cancer * cri du chat syndrome
* crohn's disease * cystic fibrosis
* dercum disease * down syndrome
* duane syndrome * duchenne muscular dystrophy
* factor v leiden thrombophilia * familial hypercholesterolemia
* familial mediterranean fever * fragile x syndrome
* gaucher disease * hemochromatosis
* hemophilia * holoprosencephaly
* ​huntington's disease * inborn errors of metabolism
* klinefelter syndrome * marfan syndrome
* ​methylmalonic acidemia * myotonic dystrophy
* neurofibromatosis * noonan syndrome
* osteogenesis imperfecta * parkinson's disease
* phenylketonuria * poland anomaly
* porphyria * progeria
* prostate cancer * retinitis pigmentosa
* severe combined immunodeficiency * sickle cell disease
* skin cancer * spinal muscular atrophy
* tay-sachs disease * thalassemia
* trimethylaminuria * turner syndrome
* velocardiofacial syndrome * wilson disease

A-Z of Genetic Diseases (External)

0-9 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z



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