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Ring chromosome 6: clinical and cytogenetic behaviour.

作者信息

Paz-y-Miño C, Benítez J, Ayuso C, Sánchez-Cascos A

机构信息

Laboratory de Genética, Facultad de Medicina, Universidad Central del Ecuador, Quito.

出版信息

Am J Med Genet. 1990 Apr;35(4):481-3. doi: 10.1002/ajmg.1320350407.

Abstract

Several investigators have reported in vitro instability of ring chromosomes. We have evaluated the clinical and cytogenetic course over 8 years in a patient with ring chromosome 6 and found stability in this ring chromosome. The different cell lines remained constant, and the phenotype showed little variation. This syndrome seems to be related to the deletion in the ring rather than to its instability.

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