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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.
A. Abdallat–Davis–Farrage syndrome; Abetalipoproteinemia; Absent tibia-polydactyly-arachnoid cyst syndrome; Acanthosis nigricans-muscle cramps-acral enlargement syndrome
[1] [2] The mutation responsible can occur spontaneously before embryonic development (a de novo mutation), or it can be inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both ...
Category: Genetic disorders by inheritance. 16 languages. ... Autosomal recessive disorders (5 C, 441 P) M. Mitochondrial diseases (25 P) X. X-linked dominant ...
Autosomal dominant A 50/50 chance of inheritance. Sickle-cell disease is inherited in the autosomal recessive pattern. When both parents have sickle-cell trait (carrier), a child has a 25% chance of sickle-cell disease (red icon), 25% do not carry any sickle-cell alleles (blue icon), and 50% have the heterozygous (carrier) condition. [1]
An example pedigree chart of an autosomal dominant disorder An example pedigree chart of an autosomal recessive disorder An example pedigree chart of a sex-linked disorder (The gene is on the X chromosome.) The description of a mode of biological inheritance consists of three main categories: 1. Number of involved loci
Autosomal recessive inheritance, a 25% chance, and (purple) a 50% carrier chance. Autosomal recessive traits is one pattern of inheritance for a trait, disease, or disorder to be passed on through families. For a recessive trait or disease to be displayed two copies of the trait or disorder needs to be presented.
Autosomal recessive disorders occur in individuals who have two copies of an allele for a particular recessive genetic mutation. [23] Except in certain rare circumstances, such as new mutations or uniparental disomy, both parents of an individual with such a disorder will be carriers of the gene. These carriers do not display any signs of the ...