● Autosomal or X-linked inheritance Autosomal disorders:affect males and females equally. X-linked disorders:affect males and females differently. Dominant and recessive inheritance Recessive:a phenotype expressed only in homozygotes (or,for X-linked traits,male hemizygotes)and not in heterozygotes,loss-of- function mutations. Dominant:a phenotype expressed in both homozygotes and heterozygotes for a mutant allele. This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information
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3.Transmission patterns of Mendelian inheritance Autosomal Dominant Inheritance(AD) Autosomal Recessive Inheritance (AR) o X-linked Dominant Inheritance(XD) X-linked Recessive Inheritance(XR) o Y-linked inheritance This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information
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Medical Genetics Autosomal Inheritance AD:DD Affected (lethal) Dd Affected dd Normal (D:Affected gene d:Normal gene) AR:DD Normal Dd Normal(Carrier) dd Affected (D:Normal gene d:Affected gene) This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information
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3.1 Autosomal dominant inheritance More than half of all Mendelian disorders are inherited as autosomal dominant traits. The risk and severity of dominantly inherited disease in the offspring depend on whether one or both parents are affected and whether the trait is strictly dominant or incompletely dominant. This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information
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Medical Genetics AD-Marfan syndrome Dolichocephaly; Frequent hypotonia and muscular underdevelopment; Long,thin extremities, kyphoscoliosis,and joint laxity; Decreased ratio of upper segment (vertex to pubis)to lower segment (pubis to sole); Pectus excavatum; Cardiovascular disease in 60-80%of cases with mitral dysfunction being most frequent problem. Gene Mutation:FBN1 This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information
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