45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, is a mutation of sex development in humans associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. This is called a mosaic karyotype because, like tiles in mosaic floors or walls, there is more than one type of cell.
The chromosomal abnormalities of TS are highly variable; 45,X/46,XY mosaicism accounts for 10-12% of cases of Turner syndrome. Despite the presence of hypogonadism, affected females typically have a uterus.
The 45,X/46,XY karyotype represents a wide spectrum of phenotypes, from Turner females to phenotypically normal males with varying degrees of genital ambiguity (5).
The prognosis, or outlook, for women with Turner syndrome (TS) is usually good. Life expectancy for Turner syndrome might be slightly shorter, but by testing for and treating the conditions that come with TS, women with TS can expect to live essentially normal lives.
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.
Nearly two-thirds of people with Turner syndrome have autism traits, and almost one-quarter meet the diagnostic criteria for autism, a new study suggests. Turner syndrome, which affects about 4 in every 10,000 people designated female at birth, usually results from a missing or mosaic X chromosome.
Turner syndrome occurs in 1 of 2,500 female births. With medical care, babies born with Turner syndrome can live relatively normal lives.
Most people with Turner syndrome have normal intelligence. Developmental delays, nonverbal learning disabilities, and behavioral problems are possible, although these characteristics vary among affected individuals.
Girls who have Turner syndrome don't have typical ovarian development. Because the ovaries are responsible for making the hormones that control breast growth and menstruation, most girls with TS won't go through all the changes associated with puberty unless they get treatment for the condition.
Individuals with TS are at higher risk of being diagnosed with depression, anxiety disorders, mood disorders, autism spectrum disorders, attention deficit hyperactivity disorder, schizophrenia, and psychotic disorders [7]. Social difficulties appear to be an area of vulnerability for young women.
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. This means a girl with TS has only one X chromosome in her 23 rd pair.
Turner syndrome affects about 1 of every 2,500 female live births worldwide. This disorder affects all races and regions of the world equally. There are no known environmental risks for Turner syndrome. Parents who have had many unaffected children can still have a child with Turner syndrome later on.
SWYER syndrome or pure gonadal dysgenesis is a disease in which individuals with a female phenotype, with female external genital organs, have a 46 XY karyotype and streak gonads that ought to be removed given their high malignization potential.
Most individuals with 47,XYY syndrome have normal production of the male sex hormone testosterone and normal male sexual development, and they are usually able to father children.
Tom Cruise
Tom Cruise is one of the most influential and famous people with Klinefelter syndrome. He is a renowned American actor who has won many accolades for his work.
About 1 in 20,000 men has no Y chromosome, instead having 2 Xs. This means that in the United States there are about 7,500 men without a Y chromosome. The equivalent situation – females who have XY instead of XX chromosomes – can occur for a variety of reasons and overall is similar in frequency.
Appearance. Features of Turner syndrome may include a short neck with a webbed appearance, low hairline at the back of the neck, low-set ears, hands and feet that are swollen or puffy at birth, and soft nails that turn upward. Stature. Girls with Turner syndrome grow more slowly than other children.
Short stature is the single most common physical abnormality in Turner Syndrome, and individuals not treated with growth-promoting techniques achieve an adult stature 20 cm shorter than that of the normal population to a final height on average 4'7″.
Typically, girls with Turner syndrome will go through a phase in childhood that involves: physical overactivity, such as constant fidgeting and restlessness. acting impulsively, such as breaking rules or having no sense of danger. having a short attention span and being easily distracted.
Turner syndrome can cause a wide variety of symptoms that affect a range of organs, including the heart, eyes, ears, bones, and kidneys. Most girls with Turner syndrome are born with poorly formed or missing ovaries, which can result in a failure to reach puberty and infertility. Many are also short in stature.
Is Turner syndrome considered a disability? Turner syndrome is not considered a disability, although it can cause certain learning challenges, including with learning mathematics and with memory. Most girls and women with Turner syndrome lead normal, healthy, productive lives with proper medical care.
After the age of puberty, unless treated with female hormones, these findings may be present: Pubic hair is often present and normal. Breast development may not occur. Menstrual periods are absent or very light.
Turners syndrome girls will have no eggs in their ovaries as adults and will be sterile.
Things to remember
Turner's syndrome is a random genetic disorder that affects women. Usually, a woman has two X chromosomes. However, in women with Turner's syndrome, one of these chromosomes is absent or abnormal.