What are facts about Turner syndrome?
Turner syndrome is a chromosomal condition that alters development in females. Women with this condition tend to be shorter than average and are usually unable to conceive a child (infertile) because of an absence of ovarian function. Other features of this condition that can vary among women who have Turner syndrome include: extra skin on the ...
What are the risk factors of Turner syndrome?
- Wide or weblike neck
- Low-set ears
- Broad chest with widely spaced nipples
- High, narrow roof of the mouth (palate)
- Arms that turn outward at the elbows
- Fingernails and toenails that are narrow and turned upward
- Swelling of the hands and feet, especially at birth
- Slightly smaller than average height at birth
- Slowed growth
- Cardiac defects
What is life like with Turner syndrome?
What life is like with turners syndrome? Girls with Turner syndrome usually have normal intelligence, but some may have learning problems, particularly in math. Many also struggle with tasks requiring spatial skills, such as map reading or visual organization. Hearing problems are more common in girls with TS.
What are common treatments for Turner syndrome?
Some hospitals have dedicated Turner syndrome clinics with a number of specialists, including:
- a paediatric endocrinologist – a specialist in conditions that affect the hormones of children and teenagers
- a psychologist – a specialist in managing emotional, behavioural and educational problems
- a gynaecologist – a specialist in treating conditions that affect the female reproductive system
How is Turner syndrome inherited?
Turner syndrome is not usually inherited in families. Turner syndrome occurs when one of the two X chromosomes normally found in women is missing or incomplete. Although the exact cause of Turner syndrome is not known, it appears to occur as a result of a random error during the formation of either the eggs or sperm.
Is Turner's syndrome autosomal or Sexlinked?
Taken together, these findings suggest that growth-related phenotypes in Turner syndrome are mediated in part by one or more autosomal imprinted genes, as well as by X-linked genes.
Which parent gives Turner syndrome?
Turner syndrome is not caused by anything the parents did or did not do. The disorder is a random error in cell division that happens when a parent's reproductive cells are being formed. Girls born with the X condition in only some of their cells have mosaic Turner syndrome.
What type of genetic mutation is Turner syndrome?
The genetic changes of Turner syndrome may be one of the following: Monosomy. The complete absence of an X chromosome generally occurs because of an error in the father's sperm or in the mother's egg. This results in every cell in the body having only one X chromosome.
Can a male have Turner syndrome?
Turner syndrome, characterized by the presence of a monosomy X cell line, is a common chromosomal dis- order. Patients with Turner syndrome are usually phenotypically female, and male cases are rarely reported.
What causes Turner syndrome?
Turner syndrome is caused by partial or complete loss (monosomy) of the second sex chromosome. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual and they come in pairs. We receive one copy from each parent.
What are the odds of having a baby with Turner syndrome?
Prevalence. About 1 in every 2,500 newborn babies have Turner syndrome. 1 Yet according to research, monosomy X is present in 1–2% of all conceptions, but about 99% of affected babies are miscarried or stillborn.
Why can't males have Turner syndrome?
Turner Syndrome Causes Turner syndrome happens when a female is missing certain genes that are normally on the X chromosome. (Females have two X chromosomes. Males have an X and a Y). Some girls with Turner are actually missing a whole copy of the X chromosome.
Can Turner syndrome be detected before birth?
Turner syndrome is usually identified during childhood or at puberty. However, it can sometimes be diagnosed before a baby is born using a test called amniocentesis.
Is Turner syndrome maternal or paternal?
Turner syndrome is not related to advanced maternal age; and in fact, is more likely due to instability of the Y chromosome leading to its loss during male meiosis since 75–80% of X chromosomes in TS patients are maternal in origin.
Which chromosome is affected in Turner syndrome?
Turner syndrome is the most common sex chromosomal disorder affecting girls and women. TS happens when the X chromosome is completely or partially missing. It's a sporadic problem, meaning it happens randomly. The problem often occurs in the parent's egg or sperm during fertilization.
What percent of the population has Turner syndrome?
Turner syndrome is the most common sex chromosome abnormality in females and occurs in approximately 1 in 2000 to 1 in 2500 live female births, based on epidemiological and newborn genetic screening data from Europe, Japan, and the United States [3-5].
Is turner's syndrome dominant or recessive?
Neither: Turner syndrome is not usually consider dominant or recessive. In Turner syndrome the affected individual is missing on sex chromosome. They only ha... Read More
Can males get turner's syndrome?
No: Turner syndrome is caused by an abnormal karyotype that contains only a single x chromosome and no y chromosome. It thus seen only in females.
What is done for turner's syndrome?
Depends on age: If recognized in the newborn period, a ts patient is evaluated for any of the problems that can be hard to detect but cause real problems later like k... Read More
Do you know what turner's syndrome is?
Chromosome loss: The turner syndrome (xo) is a chromosome deficiency where there is a loss of one of the sex chromosomes. The presence of one female chromosome will di... Read More
What culture or race is associated with turner's syndrome?
Equal opportunity Dx: Turner syndrome ( xo sex chromasomes) has been reported across all races, cultures and socio-economic groups.After conception, many are lost early in p... Read More
Newly diagnosed with turner's syndrome. any advice on childbearing?
REI/ART.: Your best bet to get pregnant is wiith art (assisted reproduction technologies) under rei (reproductive endocrinologist, infertility specialist) super... Read More
What are the symptoms of turner syndrome?
Turner syndrome: Symptoms and features of turner syndrome: thick neck, wide chest with distant nipples, osteoporosis, short stature, higher risk of diabetes, osteoporo... Read More
What is Turner syndrome?
Listen. Turner syndrome is a chromosomal disorder that affects development in females. It results when a female's cells have one normal X chromosome and the other sex chromosome is either missing or structurally altered (females without Turner syndrome have two normal X chromosomes in each cell, and males have one X and one Y chromosome ).
How many chromosomes does Turner syndrome have?
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, features of Turner syndrome may or may not be present. A deletion may occur sporadically (not inherited) or it may be inherited from a parent.
What is the FDA approved indication for Turner syndrome?
FDA-approved indication: For the treatment of short stature associated with Turner syndrome in patients whose epiphyses are not closed. In addition, for the treatment of short stature or growth failure in children with cuases of SHOX (short stature homeobox -containing gene) deficiency whose epiphyses are not closed.
What is MedlinePlus Genetics?
MedlinePlus Genetics contains information on Turner syndrome. This website is maintained by the National Library of Medicine.
Can genetic testing identify Turner syndrome?
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 genetics professional.
Is Turner syndrome inherited?
Most affected girls and women have normal intelligence, but some have developmental delays, learning disabilities, and/or behavior problems. Turner syndrome is typically not inherited, but it can be inherited in rare cases.
