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Type 1 is characterised by congenital sensorineural hearing loss, pigmentary deficiencies of the hair such as a white lock of hair in the front-centre of the head or premature greying, pigmentary deficiencies of the eyes such as different-coloured eyes (complete heterochromia iridum), multiple colours in an eye (sectoral heterochromia iridum) or brilliant blue eyes, patches of skin ...
Heterochromia is determined by the production, delivery, and concentration of melanin (a pigment). It may be inherited, or caused by genetic mosaicism, chimerism, disease, or injury. [2] It occurs in humans and certain breeds of domesticated animals. Heterochromia of the eye is called heterochromia iridum or heterochromia iridis. It can be ...
An example of this is one of the milder forms of Klinefelter syndrome, called 46,XY/47,XXY mosaic wherein some of the patient's cells contain XY chromosomes, and some contain XXY chromosomes. The 46/47 annotation indicates that the XY cells have the normal number of 46 total chromosomes, and the XXY cells have a total of 47 chromosomes.
White matter is the tissue that forms connections between brain cells and the rest of the nervous system, helping these regions communicate with each other through nerve signals. Having decreased ...
Leucism is often used to describe the phenotype that results from defects in pigment cell differentiation and/or migration from the neural crest to skin, hair, or feathers during development. This results in either the entire surface (if all pigment cells fail to develop) or patches of body surface (if only a subset are defective) having a lack ...
Occasionally, heterochromia can be a sign of a serious medical condition. A common cause in females with heterochromia is X-inactivation, which can result in a number of heterochromatic traits, such as calico cats. Trauma and certain medications, such as some prostaglandin analogues, can also cause increased pigmentation in one eye. [88]
Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma, seizures, intellectual disability, and ipsilateral leptomeningeal angioma (cerebral malformations and tumors).
Brain cells make up the functional tissue of the brain. The rest of the brain tissue is the structural stroma that includes connective tissue such as the meninges , blood vessels , and ducts. The two main types of cells in the brain are neurons , also known as nerve cells, and glial cells , also known as neuroglia. [ 1 ]