Turner+Syndrome-Pooja+P.

Turner Syndrome

**Description: ** It affects girls, and then they get problems. Addiction to growth problems. Turner syndrome prevents the ovaries from developing properly, which affects sexual development and the ability to have children.

**Inheritance:** Most cases of Turner Syndrome are not inherited. When this condition results from monosomy X, the chromosomal abnormality occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may lose a sex chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have a single X chromosome in each cell and will be missing the other sex chromosome.

**Symptoms: ** v Extra skin on the neck v Puffiness or swelling of the hands and feet (lymph edema) v A low hair line at the back of the neck v Low-set ears, hands, and feet v Swollen or puffy at birth v Soft nails that turn upward at the ends, when at an older age v Colored spots on the skin v Problems with breast development v Infertility v Short fingers and toes v <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Irregular rotation of wrist and elbow joints v <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Heart defects v <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Kidney problems. v <span style="font-family: 'Times','serif'; font-size: 12pt;">a webbed neck v <span style="font-family: 'Times','serif'; font-size: 12pt;">low birth weight v <span style="font-family: 'Times','serif'; font-size: 12pt;">heart defects such as coarctation of the Aorta **<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Daily Life: ** <span style="color: black; font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 14.25pt; margin: 0in 0in 0pt;">A life of a person with Turner Syndrome. This varies a lot. It depends on many factors. TS can lead to different health problems, normally these people are shorter and have problems with the heart, kidneys or thyroid. But it is not always like that. I, for example, have the TS and some slight health problems, but in my everyday life it does not show. I have to take pills every day and every few months I need to be examined completely because of heart and thyroid problems, but I lead a normal life.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Diagnosis: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: 14.25pt; margin: 0in 0in 0pt;">Special blood tests often made during prenatal testing because of an abnormal amniocentesis. For women with a mild form of Turner Syndrome, diagnosis may occur later in life.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Treatment: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: normal; margin: 0in 0in 0pt;">Treated with hormone indications for GH therapy lone at high doses and later estrogen therapy

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Research: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: normal; margin: 0in 0in 0pt;">This NIH study is an in-depth and comprehensive characterization of clinical features of Turner syndrome. We aim to refine the diagnosis and recognition of potential and existing medical problems, resulting in improved preventative and therapeutic medical care. Individuals with Turner's have a high risk for developing high blood pressure, problems with major blood vessels including potentially life-threatening rupture of the aorta, diabetes, and osteoporosis..

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Additional Facts: ** <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%;">Turner Syndrome is a medical disorder that affects about 1 in every 2,500 girls. Although researchers don't know exactly what causes Turner syndrome, they do know that it's the result of a problem with a girl's **[|**chromosomes**].** <span style="color: black; font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%;">The effects of the condition vary widely among girls with Turner syndrome. It all depends on how many of the body's cells are affected by the changes to the X chromosome.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Punnett Square: **



**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Pedigree Chart: **



**<span style="color: black; font-family: 'Times New Roman','serif';">﻿ ****<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Resources: **

<span style="font-family: 'Times','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Kids Health <span style="font-family: 'Times','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">[] <span style="font-family: 'Times','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Genetics Home Reference <span style="font-family: 'Times','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">[] <span style="font-family: 'Times','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Diagnosis of Turner Syndrome <span style="font-family: 'Times','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">[]