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Ring chromosome 18 in a mother and son.

作者信息

Donlan M A, Dolan C R

出版信息

Am J Med Genet. 1986 May;24(1):171-4. doi: 10.1002/ajmg.1320240121.

Abstract

Inheritance of ring chromosomes is reported infrequently. We report on a mother and her son both with a ring 18 chromosome, and describe the associated manifestations. The son had microcephaly, ptosis, short stature, and mental retardation; the mother was mentally retarded and had a similar facial appearance.

摘要

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