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.
PMID:3706404
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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引用本文的文献
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