Microcephalin 1
Mutation of this gene is responsible for an autosomal recessive form of primary microcephaly with no other malformations. Microcephalin 1 (MCPH1) is expressed in fetal brain in the developing forebrain and the walls of the lateral ventricles. Cells in this region divide to produce neurons that migrate to form the cerebral cortex. The MCPH1 gene is on chromosome 8 in region 8p23.
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An abnormally small head due to failure of brain growth. Microcephaly is an ominous sign because it is almost always associated with developmental delay and mental retardation. Many factors can impair the growth of the brain, including intrauterine infections (such as rubella, cytomegalovirus, and toxoplasmosis), intrauterine chemical exposure (such as in fetal alcohol syndrome), excessive […]
- Microcystic corneal dystrophy
Cogan corneal dystrophy. It is also known, to add to the confusion, as map-dot-fingerprint type corneal dystrophy.
- Microcytic
Literally, referring to any abnormally small cell; in practice, referring to an abnormally small red blood cell. For example, microcytic anemia is characterized by small red blood cells. The opposite of microcytic is macrocytic.
- Microdeletion
Loss of a tiny piece’a piece that may be too small to be seen readily through a microscope’from a chromosome. Microdeletions can be detected via high-resolution chromosome banding, molecular chromosome analysis (with FISH), or DNA analysis. Disorders caused by microdeletions include Angelman, DiGeorge, Prader-Willi, and Williams syndromes.
- Microduplication
The gain of a tiny piece of a chromosome, a piece so small its presence is not apparent on ordinary examination (using a regular light microscope to look at chromosomes prepared in the usual fashion). The detection of microduplications requires special techniques such as high-resolution chromosome banding, molecular chromosome analysis (with FISH), or molecular genetic […]