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 predisposed to rearrangement due to misalignment of what are called low-copy repeats -- a small number of adjacent copies of an identical pattern of nucleotides in the DNA . The microduplication may be detected by interphase fluorescence in situ hybridization ( FISH ). The size of the microduplications range from 34 Mb to 6 Mb.

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