What is another name for Turner syndrome?
Other names for Turner’s syndrome include monosomy X, 45X and Ullrich-Turner syndrome.
What is the scientific name for Turner syndrome?
Turner syndrome is a genetic condition caused by an abnormality on one of your sex chromosomes. It’s also called monosomy X, gonadal dysgenesis, and Bonnevie-Ullrich syndrome.
What are the two types of Turner syndrome?
There are 2 types of Turner syndrome: monosomy X TS and mosaic TS. About half of all girls with Turner syndrome have a monosomy disorder. Monosomy means that a person is missing one chromosome in the pair. Instead of 46 chromosomes, the person has only 45 chromosomes.
Why is it named Turner syndrome?
Turner syndrome is named for Henry Turner who, in 1938, was one of the first doctors to report on the disorder in the medical literature. Turner syndrome is one of the most common chromosomal disorders and likely the most common genetic disorder of females.
Can you live with Monosomy?
In most cases, embryos with monosomy of the autosomes or sex chromosomes are not viable. Some individuals with monosomy of the sex chromosomes (45XO genotype) can survive, however (Figure 6). Such individuals, who are said to have Turner’s syndrome, exhibit a female phenotype, but the gonads are sterile.
Why does Turner syndrome only affect females?
The condition only occurs in females. Most commonly, a female with Turner syndrome has only 1 X chromosome. Others may have 2 X chromosomes, but one of them is incomplete. Sometimes, a female has some cells with 2 X chromosomes, but other cells have only 1.
Can you live with monosomy 21?
Monosomy 21 is a very rare condition with less than 50 cases described in the literature. Full monosomy 21 is probably not compatible with life.
Can Turner syndrome have babies?
Very few pregnancies in which the fetus has Turner Syndrome result in live births. Most end in early pregnancy loss. Most women with Turner syndrome cannot get pregnant naturally. In one study, as many as 40% of women with Turner syndrome got pregnant using donated eggs.
What is the karyotype of Turner syndrome?
Turner syndrome is associated with a 45,X karyotype, with a single X chromosome. Mosaicism is not uncommon, however, with a separate cell line containing either a normal 46,XX or XY karyotype, or 46 chromosomes including a structurally rearranged X or Y.
What is a webbed neck?
Definition. A congenital, usually bilateral, thick web-like fold of skin that extends from the acromion to the mastoid process. This deformity is associated with Turner Syndrome and Noonan Syndrome. [ from NCI]
Can Turner syndrome be detected before birth?
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.
Is Turner syndrome caused by mother or father?
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).
What are three symptoms of Turner’s syndrome?
Signs of Turner syndrome at birth or during infancy may include:
- 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.
What trisomy is Turner syndrome?
Trisomy 13, 18, 21, Triploidy and Turner syndrome: the 5T’s.
Can males 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.