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由于21号环状染色体导致的表观21号染色体单体性：通过DNA分析揭示亲本来源

Apparent monosomy 21 owing to a ring 21 chromosome: parental origin revealed by DNA analysis.

作者信息

Dalgleish R, Duckett D P, Woodhouse M, Shannon R S, Young I D

机构信息

Department of Genetics, University of Leicester.

出版信息

J Med Genet. 1988 Dec;25(12):851-4. doi: 10.1136/jmg.25.12.851.

DOI:10.1136/jmg.25.12.851
PMID:3236369
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051617/
Abstract

A three and a half year old mildly retarded boy is presented. Karyotyping showed monosomy 21 (45,XY,-21) in all 50 metaphase spreads examined from two lymphocyte cultures, and in 20% of cells examined from cultured fibroblasts; the remaining 80% of cells showed a ring 21 chromosome (46,XY,r(21)(p1q22]. Molecular studies using chromosome 21 specific DNA probes confirmed the monosomy in blood and showed that the ring 21 chromosome was paternal in origin. Parental karyotypes were normal.

摘要

本文报告了一名3岁半的轻度智力发育迟缓男孩。对两份淋巴细胞培养物中检查的所有50个中期分裂相进行核型分析，结果显示为21号染色体单体（45,XY,-21），在培养的成纤维细胞检查的细胞中，20%显示同样结果；其余80%的细胞显示21号环状染色体（46,XY,r(21)(p1q22]。使用21号染色体特异性DNA探针进行的分子研究证实血液中存在单体，并表明21号环状染色体源自父亲。父母的核型均正常。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a45/1051617/f59ba779ad6d/jmedgene00074-0061-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a45/1051617/c7fd8424c7ad/jmedgene00074-0060-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a45/1051617/f59ba779ad6d/jmedgene00074-0061-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a45/1051617/c7fd8424c7ad/jmedgene00074-0060-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a45/1051617/f59ba779ad6d/jmedgene00074-0061-a.jpg

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J Med Genet. 1988 Dec;25(12):851-4. doi: 10.1136/jmg.25.12.851.
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引用本文的文献

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Combined Immunodeficiency with Ring Chromosome 21.
J Clin Immunol. 2018 Apr;38(3):251-256. doi: 10.1007/s10875-018-0493-z. Epub 2018 Apr 15.
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Combined immunodeficiency in a patient with mosaic monosomy 21.一名患有嵌合型21号染色体单体的患者出现联合免疫缺陷。
Immunol Res. 2016 Aug;64(4):841-7. doi: 10.1007/s12026-016-8803-0.
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J Med Genet. 1994 Jul;31(7):534-40. doi: 10.1136/jmg.31.7.534.

本文引用的文献

1
Acute megakaryoblastic leukaemia associated with intrinsic platelet dysfunction and constitution ring 21 chromosome in a young boy.
Br J Haematol. 1982 Feb;50(2):191-200. doi: 10.1111/j.1365-2141.1982.tb01909.x.
2
Ring chromosome 21 in phenotypically apparently normal persons: report of two families from Switzerland and Italy.
Am J Med Genet. 1983 Nov;16(3):323-9. doi: 10.1002/ajmg.1320160305.
3
Identification of 21r and 22r chromosomes by quinacrine fluorescence.通过喹吖因荧光鉴定21号和22号染色体。
Clin Genet. 1972;3(4):264-70. doi: 10.1111/j.1399-0004.1972.tb04275.x.
4
4
Expression of LFA-1 by a lymphoblastoid cell line from a patient with monosomy 21: effects on intercellular adhesion.来自21号染色体单体患者的淋巴母细胞系中淋巴细胞功能相关抗原-1（LFA-1）的表达：对细胞间黏附的影响
Clin Exp Immunol. 1990 Sep;81(3):501-6. doi: 10.1111/j.1365-2249.1990.tb05363.x.
Isolation of polymorphic DNA segments from human chromosome 21.从人类21号染色体中分离多态性DNA片段。
Nucleic Acids Res. 1985 Sep 11;13(17):6075-88. doi: 10.1093/nar/13.17.6075.
5
Hypervariable 'minisatellite' regions in human DNA.人类DNA中的高变“微卫星”区域。
Nature. 1985;314(6006):67-73. doi: 10.1038/314067a0.
6
Ring 21 chromosome: the mild end of the phenotypic spectrum.21号环状染色体：表型谱的轻度一端。
Clin Genet. 1986 Dec;30(6):466-70. doi: 10.1111/j.1399-0004.1986.tb01912.x.
7
Ring chromosome 21: characterization of DNA sequences at sites of breakage and reunion.
Ann N Y Acad Sci. 1985;450:33-42. doi: 10.1111/j.1749-6632.1985.tb21481.x.
8
Length polymorphism in the pro alpha 2(I) collagen gene: an alternative explanation in a case of Marfan syndrome.原α2（I）胶原蛋白基因中的长度多态性：马凡综合征一例的另一种解释。
Hum Genet. 1986 May;73(1):91-2. doi: 10.1007/BF00292673.
9
Four new cases of ring 21 and 22 including familial transmission of ring 21.4例21号和22号环状染色体新病例，包括21号环状染色体的家族性传递。
J Med Genet. 1977 Feb;14(1):54-60. doi: 10.1136/jmg.14.1.54.