Keywords

#microdeletion_syndrome

Microdeletion syndrome

Syndrome caused by chromosomal deletion

A microdeletion syndrome is a syndrome caused by a chromosomal deletion smaller than 5 million base pairs spanning several genes that is too small to be detected by conventional cytogenetic methods or high resolution karyotyping. Detection is done by fluorescence in situ hybridization (FISH). Larger chromosomal deletion syndromes are detectable using karyotyping techniques.

Mon 11th

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Microdeletion syndrome 17q12 microdeletion syndrome Koolen–De Vries syndrome 3q29 microdeletion syndrome 1q21.1 deletion syndrome Smith–Magenis syndrome DiGeorge syndrome PURA syndrome 2p15-16.1 microdeletion syndrome Wolf–Hirschhorn syndrome
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