Ring chromosome 17
Alternate names[edit | edit source]
Chromosome 17 ring; Ring 17; R17
Definition[edit | edit source]
Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region.
NIH genetic and rare disease info[edit source]
Ring chromosome 17 is a rare disease.
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