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 analysis.
Disorders caused by microduplications include Charcot-Marie-Tooth disease type 1A (CMT1A) and the microduplication 22q11.2 syndrome.
The prefix “micro-” is derived from the Greek “mikros” meaning small. It diminishes whatever it precedes.
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- Microduplication 22q11.2 syndrome
A syndrome due to duplication of a tiny part of chromosome band 22q11.2. Features of the syndrome include the appearance of widely spaced eyes and superior placement of eyebrows; downslanting palpebral fissures (eye slits); mild micrognathia (small chin) and retrognathia (recessed chin); and a long, narrow face. The microduplication arises because chromosome band 22q11.2 is […]
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