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Teratogens are substances that may cause non-heritable birth defects via a toxic effect on an embryo or fetus. [1] Defects include malformations, disruptions, deformations, and dysplasia that may cause stunted growth, delayed mental development, or other congenital disorders that lack structural malformations. [2]
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.
An acquired characteristic is a non-heritable change in a function or structure of a living organism caused after birth by disease, injury, accident, deliberate modification, variation, repeated use, disuse, misuse, or other environmental influence. Acquired traits are synonymous with acquired characteristics.
Download as PDF; Printable version; ... Hearing disorders; Heritable disorders of connective tissue; I ... a non-profit organization.
Such disorders include cystic fibrosis, [27] sickle cell disease, [28] phenylketonuria [29] and thalassaemia. [ 30 ] Hereditary defects in enzymes are generally inherited in an autosomal fashion because there are more non-X chromosomes than X-chromosomes, and a recessive fashion because the enzymes from the unaffected genes are generally ...
However, in rare cases, it can have notable and serious effects on overall health, physical appearance, and other traits. Disorders that most commonly involve de novo mutations include cri-du-chat syndrome, 1p36 deletion syndrome, genetic cancer syndromes, and certain forms of autism, among others. [2]
Trinucleotide repeat disorders also follow a non-Mendelian pattern of inheritance. These diseases are all caused by the expansion of microsatellite tandem repeats consisting of a stretch of three nucleotides. [23] Typically in individuals, the number of repeated units is relatively low.
However, it is pseudo-myotonia as those with Brody disease have normal EMG. [11] Due to similar symptoms, different genes for both channels and pumps can be associated with the same disease. For instance, polymicrogyria has been associated with the channel gene SCN3A [12] and the pump gene ATP1A3, [6] among other genes that are not ion ...