“Erondu–Cymet syndrome”的意思、由来-开放百科全书

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Erondu–Cymet syndrome

释义

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Erondu–Cymet syndrome is a syndrome caused by a translocation on the 21st chromosome.^[1] The genetic karyotype for people with this condition is 46, XY, inv(21)(q11.2q22.1). Findings in these patients include hypotension, hypoxemia, seizures, and impairment of cognitive ability.^[1] Patients with this condition may have persistent left superior vena cava that drains into the left atrium, as well as pulmonary arteriovenous malformations. Erondu–Cymet syndrome was discovered in 2006 by Ugochi Erondu and Tyler Cymet.^[1]

References

1. ^¹²{{Cite journal| pmid = 17898432| date = Winter 2006| last1 = Erondu | volume = 32 | first1 = U. A.| issue = 4| last2 = Cymet | first2 = T. C.| title = Chromosome 21 abnormalities a review and report of a case of erondu-cymet syndrome| pages = 254–260| journal = Comprehensive Therapy| doi = 10.1007/BF02698072}}

2 : Genetic disorders with no OMIM|Syndromes

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