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A de novo mutation (DNM) is any mutation or alteration in the genome of an individual organism (human, animal, plant, microbe, etc.) that was not inherited from its parents. This type of mutation spontaneously occurs during the process of DNA replication during cell division. De novo mutations, by definition, are present in the affected ...
Familial adenomatous polyposis (FAP) is an autosomal dominant inherited condition in which numerous adenomatous polyps form mainly in the epithelium of the large intestine. While these polyps start out benign, malignant transformation into colon cancer occurs when they are left untreated. Three variants are known to exist, FAP and attenuated ...
Lesch–Nyhan syndrome. Lesch–Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This deficiency occurs due to mutations in the HPRT1 gene located on the X chromosome. LNS affects about 1 in 380,000 live births. [3]
Meaning Origin language and etymology Example(s) dacry(o)-of or pertaining to tears: Greek δάκρυ, tear dacryoadenitis, dacryocystitis-dactyl(o)-of or pertaining to a finger, toe Greek δάκτυλος (dáktulos), finger, toe dactylology, polydactyly: de-from, down, or away from Latin de-dehydrate, demonetize, demotion dent-
The typical human genome also contains 40,000 to 200,000 rare variants observed in less than 0.5% of the population that can only have occurred from at least one de novo germline mutation in the history of human evolution. [141] De novo mutations have also been researched as playing a crucial role in the persistence of genetic disease in humans.
Skin condition. A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system —the organ system that encloses the body and includes skin, nails, and related muscle and glands. [1] The major function of this system is as a barrier against the external environment. [2]
Chromosomal deletion syndromes result from deletion of parts of chromosomes. Depending on the location, size, and whom the deletion is inherited from, there are a few known different variations of chromosome deletions. Chromosomal deletion syndromes typically involve larger deletions that are visible using karyotyping techniques.
Specialty. Medical genetics. Hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses, is a disorder characterized by the development of multiple benign osteocartilaginous masses (exostoses) in relation to the ends of long bones of the lower limbs such as the femurs and tibias and of the upper limbs such as the ...