Aneuploidy

Introduction Named after Henry Turner, who in 1938 was one the first doctors to report his discovery in the medical literature on this disorder, Turner Syndrome (TS) also known as monosomy X. Turner Syndrome is caused by the complete or partial loss of one of the X chromosomes resulting in 45X chromosomes. This disease affects only girls and women. It is one of the most common chromosomal disorder and likely the most common genetic disorder of females (National Organization for Rare Disorders

Congenital Hypertrichosis Lanuginosa is a genetic disorder that is a change in a person’s X chromosome, #17. This disorder is also referred to as werewolf syndrome, the people affected would be called dog-men, ape-men, and even werewolves. This disorder affects both genders. With this genetic disorder, there are symptoms of excessive hair, the delayed growth of teeth, hearing issues, and very thick eyebrows. Less common symptoms are differences of skin pigmentation. Those affected by this will not

Klinefelter’s syndrome is the most common genetic disorder found in men, an additional X chromosome giving the man a sex chromosomal pattern XXY, is the main cause of this disorder. The most common characteristics that are present in the men diagnosed with Klinefelter’s syndrome include, “gynocomastia, small testes, and azoospermia” or infertility (Mailburg, 2012, p 253). Although infertility is the most common diagnosis for this disorder, many of the men are not diagnosed until later in life, after

Sirenomelia, also referred to and more commonly known as Mermaid Syndrome, is an extremely rare congenital disease characterized by the partial or complete fusion of the patient’s legs and feet, giving it the appearance of a mermaid’s tail from Greek mythology. The degree of severity can vary widely from person to person, in some cases the affected infant has only one femur while in others they have two femurs pushed together into one sealed shaft of skin. Infants affected may have one foot, both

Turner syndrome is a chromosomal condition that affects development in females, which is also known as 45, X Syndrome; this disease affects the X sex chromosome, or the Y chromosome that determines the male features. If the whole other sex chromosome is missing the sex of the child will invariably be female, that is the classic Turner's syndrome. Mosaic Turner syndrome is where the female has one complete sex chromosome, and the other is partially missing. By the age of five, they start to develop

Syndromes and Deformities Syndromes and deformations occur while the child is still in the womb of the mother. Syndromes such as, Edwards Syndrome, Klinefelter's Syndrome, Bloom Syndrome, and Turner Syndrome, research shows that a variety of these deformations occur with complications regarding the chromosomes( shown on karyotype chart). Most of these complications are not hereditary or genetically passed through the parents. All though these syndromes are not hereditary or genetically passed

Turner Syndrome is a sex chromosome disease caused by complete or partial monosomy which effects on average 1 in 2500 females (Porth, 2005). Doctor Henry Turner, an endocrinologist, discovered Turner Syndrome in 1938 (Hayden, 2013). This disease is believed to be responsible for up to 10% of spontaneous miscarriages, and many Turner Syndrome pregnancies are electively aborted (Hayden, 2013). Turner Syndrome only affects females; however, this disease can affect all ethnicities. Patients who have

Nicole is sitting in the doctor’s office for the first time. She is waiting patiently as the small round clock in the corner of the room ticks away at a snails pace. She suddenly hears footsteps coming from the other side of the door. Nicole puts her sweaty palms together as she sees the doctor enter the room with some blue papers in his hands. The doctor quickly looks at Nicole then turns away clearing his throat, “I have examined the test results that we just completed; you are pregnant but there

Turner Syndrome Shinji Lin December 15, 2015 Period 5 Turner syndrome is a chromosomal disorder that affects development in females. This condition is caused by a missing or incomplete X chromosome. In 1938, Henry Turner, an American endocrinologist, described seven women with short stature, lack of sexual development, neck webbing (extra skin on neck), low hairline, and cubitus valgus (arms that turn out at the elbow). Years earlier, Otto Ullrich, a German geneticist, independently described

Brief History: Until the mid-twentieth century, Down Syndrome was considered a mysterious genetic condition that not many scientists or common people could understand or accurately describe. More specifically, members of the society realized that people with Down Syndrome were different — but they could not distinguish or diagnosticate the characteristics or the causes of the condition. Although that is true, scientists and doctors like Jérôme Lejeune, Jean-Étienne Dominique Esquirol, and Édouard