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ENChromosome 16p12.1 Deletion Syndrome, 520-Kb
Alias:
Chromosome 16p12.1 Deletion Syndrome, 520kb
16p12.1 Microdeletion
16p12.2 Microdeletion
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Chromosome 16p12.1 Deletion Syndrome, 520-Kb, also known as chromosome 16p12.1 deletion syndrome, 520kb, is related to 16p12.2 recurrent deletion and tetralogy of fallot. An important gene associated with Chromosome 16p12.1 Deletion Syndrome, 520-Kb is FRA16E (Fragile Site, Distamycin A Type, Rare, Fra(16)(P12.1)). Affiliated tissues include heart, and related phenotypes are abnormal facial shape and global developmental delay
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