Q. What chromosomal mutation causes Turner syndrome?
About half of individuals with Turner syndrome have monosomy X , which means each cell in the individual’s body has only one copy of the X chromosome instead of the usual two sex chromosomes. Turner syndrome can also occur if one of the sex chromosomes is partially missing or rearranged rather than completely absent.
Q. What genetic error causes Turner syndrome?
Turner syndrome occurs when part or all of an X chromosome is missing from most or all of the cells in a girl’s body. A girl normally receives one X chromosome from each parent. The error that leads to the missing chromosome appears to happen during the formation of the egg or sperm.
Q. Does Turner syndrome affect males?
Noonan syndrome affects both males and females, and there is a normal chromosomal makeup (karyotype). Only females are affected by Turner syndrome, which is characterized by abnormalities affecting the X chromosome.
Q. Is Turner syndrome dominant or recessive?
Sex. Turner syndrome only occurs in females. Noonan syndrome, sometimes inappropriately called male Turner syndrome, can occur in males or females. It is an autosomal dominant genetic disorder and is not a chromosomal disorder.
Q. Is Turner syndrome considered special needs?
Those students whose Turner syndrome adversely affects their educational performance may benefit from special education under the Individuals with Disabilities Education Act (IDEA). To qualify under IDEA, a student must meet eligibility criteria in one of thirteen specific disability categories.
Q. Does Turner syndrome run in families?
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.
Q. What hormone is low in Turner syndrome?
The estrogen deficiency in girls with Turner syndrome interferes with achievement of bone mass accrual during adolescence and increases the risk for osteoporosis.
Q. Do Turner syndrome have periods?
About 2-5% of individuals with Turner syndrome have spontaneous periods and have the potential to achieve pregnancy without medical intervention. However, many affected women have absent or decreased ovarian function and need hormone therapy to achieve their period.
Q. What trisomy is Turner syndrome?
Monosomy X, or Turner syndrome, occurs when a baby is born with only one X sex chromosome, rather than the usual pair (either two Xs or one X and one Y sex chromosome).
Q. What types of treatments are there for Turner syndrome?
What are the treatment options for Turner syndrome?
- growth hormone therapy to increase growth rate and achieve a greater final height.
- estrogen therapy to help develop secondary sexual characteristics.
- progesterone therapy to help bring on a monthly menstrual cycle.
Q. How is Turner syndrome detected?
Turner syndrome may be suspected by prenatal cell-free DNA screening or certain features may be detected on prenatal ultrasound screening. Prenatal diagnostic testing can confirm the diagnosis.
Q. What support services are available for Turner syndrome?
Support Groups
- Turner Syndrome Foundation.
- Turner Syndrome Global Alliance.
- Turner Syndrome Society of the United States.
Q. Is Turner syndrome a society?
Established in 1988, the Turner Syndrome Society of the United States is a national non-profit self-help organization dedicated to increasing awareness and understanding of Turner syndrome and providing an active networking program for affected individuals.
Q. What is the current status of research on Turner syndrome?
Institute Activities and Advances Section research has shown that malformations of cardiac veins are more common than originally thought, occurring in more than 20% of women with Turner syndrome. Research also discovered a new abnormality of the aorta, common in up to half of women with Turner syndrome.
Q. Does Turner syndrome affect the brain?
Turner syndrome (TS) results from the absence of an X chromosome in females. This genetic condition is associated with specific cognitive deficits and variations in brain volumes.
Q. Is Turner’s syndrome a form of dwarfism?
Turner syndrome is a type of dwarfism that only affects females. In addition to being short in stature, girls with Turner syndrome often have heart defects and their ovaries do not develop normally.
Q. Can mosaic Turner syndrome cause pregnancy?
Turner’s syndrome (TS) is depicted as a total or partial absence of one X chromosome that results in ovarian dysgenesis. Chances of spontaneous pregnancy in TS are rare and the outcome of the pregnancies is known to be poor with an increased risk of miscarriage and stillbirths.
