[X-linked mental retardation--treatment scheme].
TL;DRAbstract
Mental retardation is a serious medical and social problem. The prevalence of mental retardation is estimated at 2-3%. Establishing the cause of mental retardation is extremely important for prognosis, management, and genetic counseling. It is postulated that 25-35% of mental retardation cases may be of genetic background. Among the genetic causes 25-30% are probably result of mutations located in the X chromosome (X-linked mental retardation--XLMR). X-linked mental retardation is a heterogeneous set of conditions responsible for a large proportion of inherited mental retardation. More than 200 XLMR conditions and 45 cloned genes are listed in catalogue available on the Internet. Traditionally, based on clinical presentation, XLMR conditions were divided into specific and nonspecific forms or syndromic and nonsyndromic. The distinction between specific and non-specific forms of XLMR is gradually becoming less clear and spectrum of phenotypic variability is very large as both syndromic
Chat with Paper
AI Agents for this Paper
Mental retardation is a serious medical and social problem. The prevalence of mental retardation is estimated at 2-3%. Establishing the cause of mental retardation is extremely important for prognosis, management, and genetic counseling. It is postulated that 25-35% of mental retardation cases may be of genetic background. Among the genetic causes 25-30% are probably result of mutations located in the X chromosome (X-linked mental retardation--XLMR). X-linked mental retardation is a heterogeneous set of conditions responsible for a large proportion of inherited mental retardation. More than 200 XLMR conditions and 45 cloned genes are listed in catalogue available on the Internet. Traditionally, based on clinical presentation, XLMR conditions were divided into specific and nonspecific forms or syndromic and nonsyndromic. The distinction between specific and non-specific forms of XLMR is gradually becoming less clear and spectrum of phenotypic variability is very large as both syndromic
Keywords
Chat
Click to start Chat