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22q13 deletion syndrome, known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations ( phenotype ) typical of a terminal deletion may be diagnosed as 22q13 ...
22q13 deletion syndrome (Phelan–McDermid syndrome) [4] is a condition caused by the deletion of the tip of the q arm on chromosome 22. Most individuals with this disorder experience cognitive delays, low muscle tone, and sleeping, eating, and behavioural issues.
NNZ-2591 is a synthetic analog of cyclic glycine-proline and experimental drug developed for Angelman syndrome, Phelan-McDermid syndrome, Pitt Hopkins syndrome, [1] [2] and Prader-Willi syndrome. [ 3 ]
This page was last edited on 22 July 2006, at 23:58 (UTC).; Text is available under the Creative Commons Attribution-ShareAlike 4.0 License; additional terms may ...
Other genetic conditions include Phelan–McDermid syndrome (22q13del), Mowat–Wilson syndrome, genetic ciliopathy, [36] and Siderius type X-linked intellectual disability (OMIM: 300263) as caused by mutations in the PHF8 gene (OMIM: 300560). [37] [38] In the rarest of cases, abnormalities with the X or Y chromosome may also cause disability.
[1] [2] Patients observe these symptoms and seek medical advice from healthcare professionals. Because most people are not diagnostically trained or knowledgeable, they typically describe their symptoms in layman's terms, rather than using specific medical terminology. This list is not exhaustive.
The RPQ is used to determine the presence and severity of post-concussion syndrome (PCS), a set of somatic, cognitive, and emotional symptoms following traumatic brain injury that may persist anywhere from a week, [1] to months, [2] or even more than six months. [1] [3] The RPQ has been cited in over 40 papers. [4]
The effects are varied depending on the particular drug given. When anesthetists administer standard doses of these anesthetic drugs to a person with pseudocholinesterase deficiency, the patient experiences prolonged paralysis of the respiratory muscles, requiring an extended period of time during which the patient must be mechanically ventilated.