Turner syndrome (TS), also known as 45,X or 45,X0, is a condition in which a female is partly or completely missing an X chromosome. Symptoms and signs vary among people affected. Many times, a brief and webbed neck, low-set ears, low hairline in the back of the throat, short stature, and swollen palms and feet are observed at dawn. Normally, they create menstrual intervals and breasts just with hormone therapy, and therefore are not able to have kids with no reproductive technologies. Heart flaws, diabetes, and low thyroid gland happen more often. Many people with TS have ordinary brains. Many, however, have problems with spatial visualization which could be required for math. Vision and hearing problems happen more frequently.
Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.
Girls and women with Turner syndrome need ongoing medical care from a variety of specialists. Regular checkups and appropriate care can help most girls and women lead healthy, independent lives.
Symptoms of turner syndrome
Symptoms and signs of Turner syndrome can change among women and girls with the disease. For many women, the existence of Turner syndrome might not be readily evident, but in different women, several physical attributes and poor development are evident early. Signs and symptoms may be subtle, developing gradually over time, or important, like heart defects.
Before birth
Turner syndrome may be suspected prenatally based on prenatal cell-free DNA screening ― a method to screen for certain chromosomal abnormalities in a developing baby using a blood sample from the mother ― or prenatal ultrasound. Prenatal ultrasound of a baby with Turner syndrome may show:
- Large fluid collection on the back of the neck or other abnormal fluid collections (edema)
- Heart abnormalities
- Abnormal kidneys
At birth or during infancy
Signs of Turner syndrome at birth or during infancy may include:
- 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
- Low hairline at the back of the head
- Receding or small lower jaw
- Short fingers and toes
- 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
Causes of turner syndrome
Most individuals are born with two sex chromosomes. Boys inherit the X chromosome from their mothers and the Y chromosome from their fathers. Ladies inherit one X chromosome from each parent. In women who have Turner syndrome, then 1 copy of the X chromosome is missing, partly missing or changed.
The genetic alterations of Turner syndrome may be among the following:
X chromosome abnormalities. Abnormal or missing sections of a single of the X chromosomes may happen. Cells have a single complete and one modified copy. This error can occur in the egg or sperm with all cells using one whole and one modified copy. Or the mistake can happen in cell division in early fetal growth in order that just some cells include the strange or missing sections of a single of their X chromosomes (mosaicism).
Y chromosome material. In a small fraction of Turner syndrome instances, some cells possess a single copy of the X chromosome and other tissues possess a single copy of the X chromosome and a Y chromosome material. These people grow as feminine, but the existence of Y chromosome material raises the probability of creating a kind of cancer known as gonadoblastoma.
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.
Mosaicism. In some cases, an error occurs in cell division during early stages of fetal development. This results in some cells in the body having two complete copies of the X chromosome. Other cells have only one copy of the X chromosome.
