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Article

[Tetrasomy of the short arm of human chromosome 18: cytogenetics and phenotypic disorders].

TSitologiia i genetika - 1 Jan 2000

Kuleshov N P, Zaletaev D V, Levina L Ia, Dement'eva G M, Arbuzov S P

Abstract excerpt

Two mentally retarded girls with a small metacentric nonsatellite extrachromosome were examined. Probands were found to share many clinical features: asthenic constitution, microcephalia, low-set malformed ears, high arched palate, long fingers and toes, a wide gap between first and second toes, clinodactyly of the 1st and 5th fingers, scoliosis. The extrachromosome was unequivocally interpreted as an...

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PMID: 4089954

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