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Article

Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies

1 Jan 2010

Abstract excerpt

BACKGROUND: Several cases have been reported of patients with a ring chromosome 18 replacing one of the normal chromosomes 18. Less common are patients with a supernumerary ring chromosomes 18. High resolution whole genome examination in patients with multiple congenital abnormalities might reveal cytogenetic abnormalities of an unexpected complexity. RESULTS: We report a 24 years old male patient with lower...

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PMID: 20618949
DOI: 10.1186/1755-8166-3-13

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