Chromosomal Conditions

It is important that the information provided to prospective parents during the prenatal screening process about conditions that are being screened for supports them to make an informed choice about their pregnancy.

FACT SHEET – Prospective Parents – Living with Down syndrome

Contact Us

Have you received unexpected news following prenatal screening or simply need advice about your options?

Support through the Down Syndrome Queensland support service is available for any prospective parent, health care professional, community service, carer or family members supporting someone who has received unexpected news about their pregnancy.

Access Support

Down syndrome

Down syndrome

About Down syndrome

Down syndrome is the most common genetic disability. There are approximately 13,000 people in Australia who have Down syndrome. The birth rate for Down syndrome is one in every 1,100 births in Australia. Down syndrome is not an illness or a disease. Down syndrome is caused when a person is born with an extra chromosome. People with Down syndrome have 47 chromosomes instead of 46. They have an extra chromosome 21, which is why Down syndrome is sometimes known as trisomy 21.

View Resource

Down syndrome

Down Syndrome Australia

The Down Syndrome Australia Federation is made up of State and Territory associations providing support, information and resources to people with Down syndrome and their families across the country. The associations have come together to represent and progress the needs, interests and aspirations of people with Down syndrome and those that support them.

Visit Website

Sex Chromosome Conditions

Sex Chromosome Conditions

Turner Syndrome Association

Turner syndrome (also called monosomy X or 45, X) occurs when a woman or non-binary person is missing all or part of one sex chromosome in some or all cells of the body.

Visit Website

Sex Chromosome Conditions

Klinefelter Syndrome

Klinefelter syndrome (47,XXY) occurs when a male or non-binary person has an extra copy of the X chromosome in some or all cells of the body.

Visit Website

Sex Chromosome Conditions

Triple X

Triple X (47,XXX) occurs when a female or non-binary person has an extra copy of the X chromosome in some or all cells of the body.

Visit Website

Sex Chromosome Conditions

Jacob syndrome

Jacob syndrome (47,XYY) occurs when a male or non-binary person has an extra copy of the Y chromosome in some or all cells of the body.

Visit Website

Healthcare Professional Resources

Turner Syndrome Association (Healthcare)

Turner syndrome (also called monosomy X or 45, X) occurs when a woman or non-binary person is missing all or part of one sex chromosome in some or all cells of the body.

Visit Website

Healthcare Professional Resources

Klinefelter Syndrome (Healthcare)

Klinefelter syndrome (47,XXY) occurs when a male or non-binary person has an extra copy of the X chromosome in some or all cells of the body.

Visit Website

Other Chromosomal Conditions

Chromosomal Conditions

Trisomy 13 or Patau syndrome

Trisomy 13, or Patau syndrome occurs in approximately 1 in every 3400 pregnancies and is caused by an extra copy of chromosome 13.

View Website

Chromosomal Conditions

Trisomy 18 or Edwards syndrome

Trisomy 18, or Edwards syndrome occurs in approximately 1 in every 1600 pregnancies and is caused by an extra copy of chromosome 18.

View Booklet

Chromosomal Conditions

Trisomy 13 and Trisomy 18

Information for medical professionals.

Visit Website