What type of disorder is turner syndrome




















Children may feel stomach pain for a range of reasons and may need treatment. Know that you are not alone, push through the anxiety of sharing to get help. Know it will shift and change, and that these feelings are not forever. The characteristic features of Angelman syndrome are not always obvious at birth, but develop during childhood.

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Skip to main content. Genetic conditions. Life expectancy is slightly reduced, but it can be improved with regular health checks to identify and treat potential problems at an early stage. Read more about treating Turner syndrome. You can opt out of the register at any time. Page last reviewed: 07 July Next review due: 07 July Characteristics of Turner syndrome Females with Turner syndrome often have a wide range of symptoms and some distinctive characteristics.

Most people are born with two sex chromosomes. Males inherit the X chromosome from their mothers and the Y chromosome from their fathers. Females inherit one X chromosome from each parent. Monosomy : One X chromosome is completely missing. Mosaic Turner syndrome , also called mosaicism or Turner mosaicism: During the early stages of fetal development, an error may occur in cell division, resulting in some cells having two X chromosome copies, while others only have one.

Sometimes, there may be some cells with both X chromosome copies, and others with one altered copy. Y chromosome material : A small number of people with TS have some cells with just one X chromosome copy, and others with just one X chromosome copy and some Y chromosome material. The individual develops as a female but with a higher risk of developing a type of cancer known as gonadoblastoma. The loss or abnormality of the X chromosome occurs spontaneously at conception when the egg is fertilized.

The missing or altered X chromosome causes errors during fetal development and in development after birth. Having one child with TS does not increase the risk of having other children with the condition. It is thought that the risk of having TS is the same for all females, regardless of ethnicity or location.

It occurs randomly, it is not associated with parental age, and there are no known toxins or environmental factors that appear to affect the risk. During pregnancy, an ultrasound test may reveal signs of TS.

Amniocentesis or chorionic villus sampling CVS are antenatal tests that can detect chromosomal abnormalities. If an infant has a wide or webbed neck, a broad chest, and widely spaced nipples, or if, as a girl grows, she has a short stature and undeveloped ovaries, TS may be present. A karyotype blood test can detect extra or missing chromosomes, chromosomal rearrangements, or chromosomal breaks.

This may be done by taking a sample of the amniotic fluid while the baby is still in the uterus, or by taking a blood sample after birth. If one X chromosome is missing or incomplete, TS is confirmed. Turner syndrome is a genetic condition with no cure, but treatment may help resolve issues with short stature, sexual development, and learning difficulties.

Early preventive care is important to reduce the risk of complications. Blood pressure and the thyroid gland need frequent monitoring, and any necessary treatment must be given immediately. Treatment for inner ear infections with an ear nose and throat ENT specialist can minimize the risk of hearing difficulties later in life. Hormone therapy may include estrogen, progesterone, and growth hormones. Complications that can occur include:. Mayo Clinic does not endorse companies or products.

Advertising revenue supports our not-for-profit mission. This content does not have an English version. This content does not have an Arabic version. Overview Turner syndrome, a condition that affects only females, results when one of the X chromosomes sex chromosomes is missing or partially missing. Request an Appointment at Mayo Clinic. Share on: Facebook Twitter. Show references National Library of Medicine. Turner syndrome. Genetics Home Reference. Accessed July 5, Learning about Turner syndrome.



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