ダウン症候群と染色体異常に関するジャーナル
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概要

An Overview on Molecular Biology and Genetics of 22q11.2 Deletion Syndrome

Joseph Christine

The 22q11.2 Deletion condition (22q11.2DS) is an intrinsic contortion and neuropsychiatric issue brought about by meiotic chromosome improvements. One of the objectives of this survey is to sum up the present status of essential examination investigations of 22q11.2DS. It features endeavors to comprehend the instruments answerable for the 22q11.2 erasures that happens in meiosis. This instrument includes the four arrangements of low duplicate rehashes (LCR22) that are scattered in the 22q11.2 district and the erasure is intervened by non-allelic homologous recombination occasions. One more significant part of 22q11.2DS is the presence of phenotypic heterogeneity. While a few patients are somewhat influenced, others have serious clinical, intellectual as well as mental difficulties. Changeability might be expected partially to the presence of hereditary modifiers.