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人类染色体的结构与功能。3. 唐氏综合征(先天愚型)一例的粗线期分析及额外染色体的鉴定

Chromosome structure and function in man. 3. Pachytene analysis and indentification of the supernumerary chromosome in a case of Down's syndrome (mongolism).

作者信息

Hungerford D A, Mellman W J, Balaban G B, LaBadie G U, Messatzzia L R, Haller G

出版信息

Proc Natl Acad Sci U S A. 1970 Sep;67(1):221-4. doi: 10.1073/pnas.67.1.221.

DOI:10.1073/pnas.67.1.221
PMID:4248157
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC283191/
Abstract

Recently developed pachytene maps of the two small acrocentric autosomes (numbers 21 and 22) of man have been applied to a case of Down's syndrome mosaic for normal and trisomic cells (46,XY/47,XY,21+). Trivalents in trisomic spermatocytes, and thus the supernumerary chromosome, were recognized as compatible in length and chromomere pattern with the shorter of these two chromosomes at the pachytene stage. With the exception of the region of the centromere and the short arm, association among constituents of the trivalent appeared complete.

摘要

最近绘制的人类两条小近端着丝粒常染色体(21号和22号)的粗线期图谱,已应用于一例具有正常细胞和三体细胞(46,XY/47,XY,21 +)的唐氏综合征嵌合体病例。三体精母细胞中的三价体,以及额外的染色体,在粗线期被认为在长度和染色粒模式上与这两条染色体中较短的那条相匹配。除了着丝粒区域和短臂外,三价体各组成部分之间的联会似乎是完全的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63ba/283191/8b1b1dcd0eda/pnas00099-0232-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63ba/283191/6d1a03831d4f/pnas00099-0231-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63ba/283191/3fe0f99359ec/pnas00099-0231-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63ba/283191/8b1b1dcd0eda/pnas00099-0232-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63ba/283191/6d1a03831d4f/pnas00099-0231-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63ba/283191/3fe0f99359ec/pnas00099-0231-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63ba/283191/8b1b1dcd0eda/pnas00099-0232-a.jpg

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Chromosome structure and function in man. 3. Pachytene analysis and indentification of the supernumerary chromosome in a case of Down's syndrome (mongolism).人类染色体的结构与功能。3. 唐氏综合征(先天愚型)一例的粗线期分析及额外染色体的鉴定
Proc Natl Acad Sci U S A. 1970 Sep;67(1):221-4. doi: 10.1073/pnas.67.1.221.
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[Report on a case of Down's syndrome with mosaicism. Trisomy 21-normal, clearly mongoloid phenotype and normal iliac index in a newborn infant].[一例嵌合型唐氏综合征病例报告。一名新生儿21三体-正常,具有明显的蒙古样表型且髂指数正常]
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[Complete Down's syndrome in a boy, formed by chromosomic mosaicism 46-XY isochromosome 21 and 47-XY, trisomy 21 with mosaicism of the mother 46-XX and 47-XX, trisomy 21)].一名患有完全型唐氏综合征的男孩,由染色体镶嵌现象形成,即46,XY,21号等臂染色体和47,XY,21号三体,其母亲存在46,XX和47,XX,21号三体的镶嵌现象。
Sangre (Barc). 1967;12(1):71-80.

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A simple reproducible method for prometaphase chromosome analysis.一种用于前中期染色体分析的简单可重复方法。

本文引用的文献

1
THE FINE STRUCTURE OF THE MAMMALIAN CHROMOSOME IN MEIOTIC PROPHASE WITH SPECIAL REFERENCE TO THE SYNAPTINEMAL COMPLEX.减数分裂前期哺乳动物染色体的精细结构,特别涉及联会复合体
J Anat. 1964 Apr;98(Pt 2):163-73.
2
Mosaic mongolism. II. Cytogenic studies.嵌合型先天愚型。II. 细胞遗传学研究。
J Pediatr. 1970 Jun;76(6):880-5. doi: 10.1016/s0022-3476(70)80369-9.
3
Mosaic mongolism. I. Clinical correlations.嵌合型先天愚型。I.临床关联
Hum Genet. 1982;60(4):328-33. doi: 10.1007/BF00569213.
4
Meiotic configurations in female trisomy 21 foetuses.21三体综合征女性胎儿的减数分裂构型。
Hum Genet. 1984;66(2-3):176-80. doi: 10.1007/BF00286596.
5
Down's syndrome in the male. Reproductive pathology and meiotic studies.男性唐氏综合征。生殖病理学与减数分裂研究。
Hum Genet. 1983;63(2):132-8. doi: 10.1007/BF00291532.
6
Meiotic chromosomes in a female with primary trisomic Down's syndrome.一名原发性三体性唐氏综合征女性的减数分裂染色体。
Hum Genet. 1982;62(3):277-9. doi: 10.1007/BF00333536.
7
Pachytene analysis in a human reciprocal (10;11) translocation.人类相互易位(10;11)的粗线期分析
J Med Genet. 1973 Sep;10(3):282-7. doi: 10.1136/jmg.10.3.282.
8
Meiosis and spermatogenesis in G-trisomic males.G三体男性的减数分裂与精子发生
Humangenetik. 1971;13(1):15-24. doi: 10.1007/BF00446409.
9
The genetics of human reproduction.人类生殖遗传学。
Experientia. 1986 Oct 15;42(10):1109-17. doi: 10.1007/BF01941285.
10
Light microscope analysis of meiotic prophase chromosomes by silver staining.通过银染对减数分裂前期染色体进行光学显微镜分析。
Chromosoma. 1979 Apr 30;72(2):241-8. doi: 10.1007/BF00293237.
J Pediatr. 1970 Jun;76(6):874-9. doi: 10.1016/s0022-3476(70)80368-7.