Turner's Syndrome

Turner’s Syndrome

Jacey Sippel

12-10-15

PCC Bio 105

Turner’s Syndrome was discovered in 1938 by Dr. Henry Turner but chromosomal abnormalities weren’t medically found until 1960. Turner’s Syndrome, also referred to as Gonadal Dysgenesis because females most of the time can’t reproduce. Turner’s Syndrome is found only in females because it affects the sex XX chromosomes. This disease is exhibited/or displayed in 1 out of every 2,500 females born worldwide, but most births that have this condition do not survive (NHGRI, 2013). This genetic issue is not hereditary or an inherited trait. Turner’s Syndrome was originally found when a group of women Dr. Henry Turner was treating for dwarfism, didn’t respond to his treatments (NHGRI, 2013).

Turner’s Syndrome may be (obviously there area births with this condition) diagnosed before birth. Ultrasounds and amniocentesis and ways to diagnose Turner’s Syndrome but the ultimate way of diagnosing is through genetic karyotyping. Karyotyping is used to “analyze the chromosomal compositing of the female” according to the National Human Genome Research Institution (NHGRI, 2013). Scientist study the body tissue, blood and other genetic material (NHGRI, 2013). When a ultrasound is conducted the technician looks for the presence of a nuchal cystic hygroma, which is a deformity in the lymphatic system’s communication with the nuchal system (Daniel, 2015). According to Maala S. Daniel, other ways to diagnose Turner’s syndrome is through laboratory studies, renal studies, cardiovascular studies, and audiology (Daniel, 2015).

Turner’s Syndrome occurs when one of the two X chromosomes in females are either damaged or missing. The exact cause of Turner’s Syndrome hasn’t been found but has been thought it comes from a random error during the formation of the egg or the sperm (NHGRI, 2013). Turner’s Syndrome is most commonly spotted by visual differences in females. Some females with this disease have extra skin around...