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Diseases

Genetic and Rare Diseases Information Center (GARD)

Turner syndrome


Other Names for this Disease
  • Ullrich-Turner syndrome
  • Bonnevie-Ulrich syndrome
  • 45, X Syndrome
  • Chromosome X Monosomy X
  • Gonadal Dysgenesis (45,X)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My stepdaughter has Turner syndrome. I was wondering if her mother or father carries the gene that causes this disease? Would a blood test from her father indicate if it came from his side of the family?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Is Turner syndrome inherited?

Most cases of Turner syndrome are not inherited. Most commonly, Turner syndrome occurs due to a random event during the formation of an egg or sperm cell in a parent (prior to conception). For example, if an egg or sperm cell mistakenly loses a sex chromosome, and joins at conception with an egg or sperm containing an X chromosome, the resulting child will have a single X chromosome in each cell.

Mosaic Turner syndrome, occurring when a person has some cells with one X chromosome and some cells with two sex chromosomes, is also not inherited. This also occurs due to a random event, during early fetal development rather than before conception.

In rare cases, Turner syndrome may be caused by a missing piece (partial deletion) of the X chromosome. A deletion can be inherited from a parent.[1]

Genetic testing of an affected fetus or child can identify the type of Turner syndrome present and may help to estimate the risk of recurrence. People with questions about genetic testing or recurrence risks for Turner syndrome are encouraged to speak with a genetic counselor or other genetics professional.
Last updated: 1/11/2016

What causes Turner syndrome?

Turner syndrome is caused by partial or complete loss of one of the X chromosomes in cells of females. Females without Turner syndrome have 2 full X chromosome in all of their cells (and males have one X chromosome and one Y chromosome). The missing genetic material affects development before and after birth.

Most females with Turner syndrome are missing a full X chromosome in all of their cells (also called monosomy X). This form results from a random error in an egg or sperm cell prior to conception.

Some females with Turner syndrome have two X chromosomes, but one of them is missing a piece (has a deletion). Depending on the specific gene(s) that are missing, the features of Turner syndrome may result. A deletion may occur sporadically (not inherited) or may be inherited from a parent.

Mosaic Turner syndrome (when some cells have one X chromosome and some have two sex chromosomes) is caused by a random error in early fetal development (shortly after conception).

It is still unclear exactly which genes on the X chromosome are associated with each feature of Turner syndrome. It is known that the SHOX gene on the X chromosome is important for growth and bone development. A missing copy of this gene is thought to result in the short stature and skeletal abnormalities in many affected women.[1]
Last updated: 1/11/2016

References
Other Names for this Disease
  • Ullrich-Turner syndrome
  • Bonnevie-Ulrich syndrome
  • 45, X Syndrome
  • Chromosome X Monosomy X
  • Gonadal Dysgenesis (45,X)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.