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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. There are over 6,000 known genetic disorders in humans.
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.
Fragile X syndrome (FXS) – (also Martin-Bell syndrome, or Escalante's syndrome), is a genetic syndrome suspected to be a genetic cause of autism in some cases; Isodicentric 15 – a genetic variation involving extra genetic material in chromosome 15.
Down syndrome or Down's syndrome, [12] also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [3] It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features.
The role of genetic influence on ASD has been heavily researched over the past few years. ASD is considered to have polygenic traits since there is not a single risk factor, but multiple ones. [8] Multiple twin and family studies have been conducted in order to observe any genetic influence in diagnosing ASD.
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.