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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.

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

相似文献

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Ring chromosome 18 in a mother and son.
Am J Med Genet. 1986 May;24(1):171-4. doi: 10.1002/ajmg.1320240121.
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引用本文的文献

1
An unexpected finding in a child with neurological problems: mosaic ring chromosome 18.一名患有神经系统问题儿童的意外发现:嵌合型环状18号染色体。
Eur J Pediatr. 2008 Jun;167(6):655-9. doi: 10.1007/s00431-007-0568-y. Epub 2007 Aug 1.
2
Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype.一条18号环状染色体从一名具有46,XX/47,XX, + r(18)嵌合体的母亲遗传给她的女儿,导致女儿的核型为46,XX,r(18)。
J Med Genet. 1993 Nov;30(11):964-5. doi: 10.1136/jmg.30.11.964.
3
Investigation of three patients with the "ring syndrome", including familial transmission of ring 5, and estimation of reproductive risks.
Hum Genet. 1990 Oct;85(5):516-20. doi: 10.1007/BF00194228.
4
Inherited ring chromosomes: an analysis of published cases.遗传性环状染色体:对已发表病例的分析
Hum Genet. 1991 Jul;87(3):320-4. doi: 10.1007/BF00200912.