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Syringomyelia is a generic term referring to a disorder in which a cyst or cavity forms within the spinal cord. Often, syringomyelia is used as a generic term before an etiology is determined. [ 3 ] This cyst, called a syrinx , can expand and elongate over time, destroying the spinal cord.
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.
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 ...
The genetic mechanism of synesthesia has long been debated, with researchers previously claiming it was a single X-linked trait due to seemingly higher prevalence in women and no evidence of male-male transmission [1] This is where the only synesthetic parent is male and the male child has synesthesia, [2] [3] meaning that the trait cannot be solely linked to the X chromosome.
DNA molecule 1 differs from DNA molecule 2 at a single base-pair location (a C/A polymorphism). A haplotype (haploid genotype) is a group of alleles in an organism that are inherited together from a single parent. [1] [2] Many organisms contain genetic material which is inherited from two parents.
Of his daughters: 100% will have the disorder, since all of his daughters will receive one copy of his single X chromosome. Of his sons: none will have the disorder; sons do not receive an X chromosome from their father. If both parents were carriers of a defective gene associated with a disease or disorder, they would both have the disorder.
Wholly genetic disorders, such as Huntingtons, are inherited from parents' genes and are present before birth but the symptoms that develop after birth are delayed manifestations of the inherited trait. Disorders that are partially genetic, such as ALS and allergies, mean the organism has inherited a predisposition to develop a certain ...
A statistic used in quantitative genetics that estimates the proportion of variation within a given phenotypic trait that is due to genetic variation between individuals in a particular population. Heritability is estimated by comparing the individual phenotypes of closely related individuals in the population.