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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.
Syringomyelia is often associated with type I Chiari malformation and is commonly seen between the C-4 and C-6 levels. The exact development of syringomyelia is unknown but many theories suggest that the herniated tonsils in type I Chiari malformations cause a "plug" to form, which does not allow an outlet of CSF from the brain to the spinal canal.
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 DNA segment is identical by state (IBS) in two or more individuals if they have identical nucleotide sequences in this segment. An IBS segment is identical by descent (IBD) in two or more individuals if they have inherited it from a common ancestor without recombination, that is, the segment has the same ancestral origin in these individuals.
Sometimes used interchangeably with genetic variation. The total number of genetic traits or characteristics in the genetic make-up of a population, species, or other group of organisms. It is often used as a measure of the adaptability of a group to changing environments. Genetic diversity is similar to, though distinct from, genetic variability.
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.
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. [3] [4] [5] It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. [6]
The two sister chromatids are separated from each other into two different cells during mitosis or during the second division of meiosis. Compare sister chromatids to homologous chromosomes, which are the two different copies of a chromosome that diploid organisms (like humans) inherit, one from each parent. Sister chromatids are by and large ...