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An example of a condition that appears to have very little if any genetic influence is irritable bowel syndrome (IBS), with a concordance of 28% vs. 27% for MZ and DZ pairs respectively. [26] An example of a human characteristics that is extremely heritable is eye color, with a concordance of 98% for MZ pairs and 7–49% for DZ pairs depending ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Trisomy 18, also known as Edwards syndrome, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. [3] Many parts of the body are affected. [ 3 ] Babies are often born small and have heart defects . [ 3 ]
1 in 4,000 (males), 1 in 8,000 (females) [1] Fragile X syndrome ( FXS ) is a genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability . [ 1 ] The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled.
Autism spectrum disorder [a] (ASD), or simply autism, is a neurodevelopmental disorder "characterized by persistent deficits in social communication and social interaction across multiple contexts" and "restricted, repetitive patterns of behavior, interests, or activities". [11]
Different underlying brain dysfunctions have been hypothesized to result in the common symptoms of autism, just as completely different brain types result in intellectual disability. [1] [5] In recent years, the prevalence and number of people diagnosed with the disorder have increased dramatically. There are many potential reasons for this ...
Gene therapy has allowed several children born with inherited deafness to hear. On Tuesday, the Children's Hospital of Philadelphia announced similar improvements in an 11-year-old boy treated there.
Mendelian traits behave according to the model of monogenic or simple gene inheritance in which one gene corresponds to one trait. Discrete traits (as opposed to continuously varying traits such as height) with simple Mendelian inheritance patterns are relatively rare in nature, and many of the clearest examples in humans cause disorders ...