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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 early names of the inherited neuropathies were given after the most prominent features or the suggested underlying mechanism of the diseases, such as mal perforant du pied, ulcero-mutilating neuropathy, hereditary perforating ulcers, familial trophoneurosis, familial syringomyelia, hereditary sensory radicular neuropathy, among others.
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 human chimera is a human with a subset of cells with a distinct genotype than other cells, that is, having genetic chimerism.In contrast, an individual where each cell contains genetic material from a human and an animal is called a human–animal hybrid, while an organism that contains a mixture of human and non-human cells would be a human-animal chimera.
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.
Introgression, also known as introgressive hybridization, in genetics is the transfer of genetic material from one species into the gene pool of another by the repeated backcrossing of an interspecific hybrid with one of its parent species. Introgression is a long-term process, even when artificial; it may take many hybrid generations before ...
An irregularly shaped region within a prokaryotic cell which contains most or all of the cell's genetic material, but is not enclosed by a nuclear membrane as in eukaryotes. nucleolin The primary protein of which the eukaryotic nucleolus is composed, thought to play important roles in chromatin decondensation, transcription of ribosomal RNA ...
Y linkage can be difficult to detect. This is partly because the Y chromosome is small and contains fewer genes than the autosomal chromosomes or the X chromosome. It is estimated to contain about 200 genes. It was once believed that the human Y chromosome was thought to have little importance. [2]