This doctor is one that specializes in childhood conditions of metabolism and hormones. Turner syndrome is a female-only genetic disorder that affects about 1 in every 2,000 baby girls. 1986 Jun; 40 (2):97–102. Those with Turner Syndrome are also at risk for having middle ear infections. Having skeletal abnormalities such as deformity of the spine known as scollosis which occurs in about ten percent of the female with this condition. In the female, sex chromosome arrangement is demonstrated as XX, whereas XY arrangement is a male. Women with Turner syndrome caused by X chromosome mosaicism are said to have mosaic Turner syndrome. Occasionally, your doctor also may request a cheek scraping (buccal smear) or skin sample. 9 Landin-Wilhelmsen K, Bryman I, Hanson C, Hanson L. Spontaneous pregnancies in a Turner syndrome woman with Y-chromosome mosaicism. Chromosomes are strands of deoxyribonucleic acid (DNA) that exist in all the cells of the human body. If 5 cells have 46 chromosomes and 15 have 47 chromosomes, a baby has a positive mosaic Down syndrome diagnosis. They can also do karyotyping which is taking a picture of the chromosomes if the doctor suspects this condition. It has been observed that the Mosaic Down syndrome affects the person very badly, however, if it is treated at an early stage then the quality of life of the patient can be improved by … This is usually around twelve years of age. They may often have normal height for the first three years and then slow down. At what point in life that it is diagnosed will depend on how severe the condition is. Puffy feet and hands along with short fingers and toes. [PMC free article] Price WH, Wilson J. Dissection of the aorta in Turner's syndrome. It occurs in 1 out of every 2,500 female births. The cause of a female having Turner Syndrome is the partial or complete absence of one of the two X chromosomes or if the chromosomes have been rearranged. J Epidemiol Community Health. Turner Syndrome was discovered in 1938 by Dr. Henry. There is no real answer as to how it happens that only one X chromosome is present but it is thought that it is random error during the formation of the sperm or eggs. The following information may help to address your question: What are the signs and symptoms of Turner syndrome? Most of them also have infertility problems due to ovary development. What might be expected if an individual has mosaic Turner syndrome with a 45,X/46,XY karyotype? TS was first described in the United States in 1938 by Dr. Henry Turner. It is very important that females with Turner Syndrome have regular health check-ups because treatment and early preventive care is important and will let them to live a healthy, normal life. If the female was born with a narrowing of the aorta or a heart murmur they may require surgery to correct these problems. The long-term outlook (prognosis) for people with Turner syndrome is typically good. Some women with Turner syndrome have a chromosomal change in only some of their cells, which is known as mosaicism. Collection of Photos, Images and Pictures of Turner Syndrome…. If the pregnancy goes to full term and the baby is born alive she will usually be small in both size and length. Short stature of only about four foot eight inches. A non-mosaic 45,X karyotype in a mother with TurnerÕs syndrome J Assist Reprod Genet2004; 21 : 229Ð230. If these injections are started early enough in childhood it could increase their height by a few inches when they reach adulthood. Some cells have X chromosomes and some don’t. Females with Turner’s Syndrome usually reach 50 years of age. I recently learned that my daughter has a karyotype of 45,X/46,XY, consistent with mosaic Turner syndrome. Data regarding clinical course and cytogenetics of Indian patients with TS were scarce. Turner syndrome can affect one person very differently from how it affects another person. 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