21号环状染色体携带者后代中的21号染色体串联重复
Tandem duplication chromosome 21 in the offspring of a ring chromosome 21 carrier.
作者信息
Miller K, Reimer A, Schulze B
机构信息
Abteilung Humangenetik, Medizinischen Hochschule Hannover, FRG.
出版信息
Ann Genet. 1987;30(3):180-2.
PMID:2960262
Abstract
A direct tandem duplication chromosome 21 was found in a boy with Down's syndrome. The proband's mother and grandmother both carried a ring chromosome 21. The observed duplication chromosome in the child may be explained either by recombination between the maternal ring and the mother's normal chromosome 21 or by break of a double-sized ring chromosome 21.
摘要
在一名唐氏综合征男孩中发现了一条21号染色体直接串联重复。先证者的母亲和祖母都携带一条21号环状染色体。孩子中观察到的重复染色体可以通过母源环状染色体与母亲正常21号染色体之间的重组，或者通过一条双倍大小的21号环状染色体断裂来解释。
相似文献
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Tandem duplication chromosome 21 in the offspring of a ring chromosome 21 carrier.21号环状染色体携带者后代中的21号染色体串联重复
Ann Genet. 1987;30(3):180-2.
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Down's syndrome with a recombinant tandem duplication of chromosome 21 derived from a maternal ring.唐氏综合征伴源自母体环状染色体 21 的重组串联重复。
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[Down's syndrome with unusual karyotype: tandem duplication of chromosome 21].
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Down's syndrome associated with a familial (21q-; 22q+) translocation.
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Ring chromosome 21 in phenotypically apparently normal persons: report of two families from Switzerland and Italy.
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Ring chromosome 21.环状21号染色体
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引用本文的文献
1
Maternal transmission of ring chromosome 21.21号环状染色体的母系传递。
Hum Genet. 1990 Nov;86(1):99-101. doi: 10.1007/BF00205185.
2
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.
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