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Turner syndrome occurs in between one in 2,000 [4] and one in 5,000 females at birth. [5] All regions of the world and cultures are affected about equally. [10] Generally people with Turner syndrome have a shorter life expectancy, mostly due to heart problems and diabetes. [7] American endocrinologist Henry Turner first described the condition ...
The most common abnormality the test can screen is trisomy 21 (Down syndrome).In addition to Down syndrome, the triple and quadruple screens assess risk for fetal trisomy 18 also known as Edwards syndrome, open neural tube defects, and may also detect an increased risk of Turner syndrome, triploidy, trisomy 16 mosaicism, fetal death, Smith–Lemli–Opitz syndrome, and steroid sulfatase ...
In terms of the diagnosis of Ullrich congenital muscular dystrophy upon inspection follicular hyperkeratosis, may be a dermatological indicator, additionally also serum creatine kinase may be mildly above normal. [6] Other exams/methods to ascertain if the individual has Ullrich congenital muscular dystrophy are: [medical citation needed] MRI
ICD-10 is the 10th revision of the International Classification of Diseases (ICD), a medical classification list by the World Health Organization (WHO). It contains codes for diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases. [1]
Almost all women with regular Turner syndrome are sterile, but those with 47,XXX cell lines are typically fertile. [29] Although women with trisomy X have lower IQs than the general population and women with Turner syndrome do not, intellectual disability does not appear to be more common in the mosaic than for non-mosaic Turner's. [ 30 ]
Kleefstra syndrome affects males and females equally and approximately 75% of all documented cases are caused by Eu-HMTase1 disruptions while only 25% are caused by 9q34.3 deletions. [3] There are no statistics on the effect the disease has on life expectancy due to the lack of information available.
Wilson-Turner syndrome (WTS), also known as mental retardation X linked syndromic 6 (MRXS6), and mental retardation X linked with gynecomastia and obesity is a congenital condition characterized by intellectual disability and associated with childhood-onset obesity. [1]
This syndrome can begin with severe shoulder or arm pain followed by weakness and numbness. [5] Those with Parsonage–Turner experience acute, sudden-onset pain radiating from the shoulder to the upper arm. Affected muscles become weak and atrophied, and in advanced cases, paralyzed. Occasionally, there will be no pain and just paralysis, and ...