08:11 Aug 28, 2008 |
Spanish to English translations [PRO] Medical - Medical (general) | |||||||
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| Selected response from: Muriel Vasconcellos United States Local time: 10:59 | ||||||
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4 +1 | by a variety of names/epithets, of which Noonan syndrome is the most common |
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by a variety of names/epithets, of which Noonan syndrome is the most common Explanation: Although, according to the citation below, your author is a little off the mainstream. Noonan Syndrome Definition: A multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of MENTAL RETARDATION. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. However, Noonan syndrome occurs in both males and females with a normal sex chromosome constitution (46,XX and 46,XY). NS1 is due to mutations at chromosome location 12q24.1, in PTPN11, a gene encoding the non-receptor type 11 PROTEIN TYROSINE PHOSPHATASE. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS). Synonym(s): Turner Syndrome, Male / Female Pseudo-Turner Syndrome / Turner's Syndrome, Male / Female Pseudo Turner Syndrome / http://www.hon.ch/HONselect/RareDiseases/EN/C05.660.207.690.... Disease names are sometimes called "epithets" - not to be confused with the colloquial meaning of the term. -------------------------------------------------- Note added at 47 mins (2008-08-28 08:58:41 GMT) -------------------------------------------------- P.S. I was wrong about "epithet" - it refers to the scientific name, not the common name. |
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