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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。

Four new cases of ring 21 and 22 including familial transmission of ring 21.

作者信息

Palmer C G, Hodes M E, Reed T, Kojetin J

出版信息

J Med Genet. 1977 Feb;14(1):54-60. doi: 10.1136/jmg.14.1.54.

DOI:10.1136/jmg.14.1.54
PMID:839502
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1013508/
Abstract

Four new cases of ring G chromosomes are presented including one family in which the ring 21 is present in a mother and in her daughter, who has 47, XXX, r(21) chromosomes. The clinical and dermatoglyphic findings in r21 and r22 syndromes are reviewed.

摘要

本文报告了4例新的环状G染色体病例，其中1例为母女同患21号环状染色体，女儿核型为47, XXX, r(21)。本文还回顾了21号和22号环状染色体综合征的临床及皮纹学表现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/721f/1013508/62ffc774bcc6/jmedgene00302-0062-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/721f/1013508/29817e5bf069/jmedgene00302-0060-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/721f/1013508/e02a12591c1d/jmedgene00302-0061-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/721f/1013508/261c9ec63558/jmedgene00302-0061-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/721f/1013508/62ffc774bcc6/jmedgene00302-0062-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/721f/1013508/29817e5bf069/jmedgene00302-0060-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/721f/1013508/e02a12591c1d/jmedgene00302-0061-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/721f/1013508/261c9ec63558/jmedgene00302-0061-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/721f/1013508/62ffc774bcc6/jmedgene00302-0062-a.jpg

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1
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.
2
Clinical and cytogenetic aspects of the 21 deletion syndrome.21号染色体缺失综合征的临床和细胞遗传学特征
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A case of "g 2 deletion syndrome": ring or partial monosomy? (46,XX,22r or 46,XX,22p- ?).一例“22号染色体缺失综合征”：环状或部分单体型？（46,XX,22r或46,XX,22p- ？）
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引用本文的文献

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Children (Basel). 2023 Aug 27;10(9):1461. doi: 10.3390/children10091461.
2
The normality of sperm in an infertile man with ring chromosome 15: a case report.不育症患者 15 号环状染色体精子的正常现象：病例报告。
J Assist Reprod Genet. 2018 Feb;35(2):251-256. doi: 10.1007/s10815-017-1061-9. Epub 2017 Oct 23.
3
Autosomal ring chromosomes in human genetic disorders.常染色体环状染色体与人类遗传疾病。

本文引用的文献

1
On the Stabilization of a Ring Chromosome in Maize.关于玉米环状染色体的稳定性
Genetics. 1958 Jan;43(1):86-91. doi: 10.1093/genetics/43.1.86.
2
Evidence for Sister-Strand Crossing over in Maize.玉米中姐妹染色单体交换的证据。
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3
The Production of Homozygous Deficient Tissues with Mutant Characteristics by Means of the Aberrant Mitotic Behavior of Ring-Shaped Chromosomes.通过环状染色体的异常有丝分裂行为产生具有突变特征的纯合缺陷组织。
Transl Pediatr. 2015 Apr;4(2):164-74. doi: 10.3978/j.issn.2224-4336.2015.03.04.
4
Inheritance of a ring 14 chromosome.14号环状染色体的遗传。
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5
Segregation of a 22 ring chromosome in three generations.一条22号环状染色体在三代中的分离情况。
Hum Genet. 1983;63(3):294-6. doi: 10.1007/BF00284669.
6
A case of r(21) with stigmata of atypical Down syndrome.一例伴有非典型唐氏综合征体征的r(21)病例。
Hum Genet. 1980;55(1):65-9. doi: 10.1007/BF00329128.
7
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。
J Med Genet. 1984 Aug;21(4):310-4. doi: 10.1136/jmg.21.4.310.
8
Maternally transmitted extra ring (21) chromosome in a boy with Down's syndrome.一名患有唐氏综合征男孩的母系遗传额外环状（21）染色体。
Hum Genet. 1982;60(1):78-9. doi: 10.1007/BF00281270.
9
Ring chromosome 21 in healthy persons: different consequences in females and in males.
Hum Genet. 1986 Jul;73(3):218-20. doi: 10.1007/BF00401230.
10
Apparent monosomy 21 owing to a ring 21 chromosome: parental origin revealed by DNA analysis.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
J Med Genet. 1988 Dec;25(12):851-4. doi: 10.1136/jmg.25.12.851.
Genetics. 1938 Jul;23(4):315-76. doi: 10.1093/genetics/23.4.315.
4
A Closed X Chromosome in Drosophila Melanogaster.果蝇中的一条封闭X染色体。
Genetics. 1933 May;18(3):250-83. doi: 10.1093/genetics/18.3.250.
5
FAMILIAL VARIANT AUTOSOMES: NEW HUMAN CYTOGENETIC MARKERS.
Bull Johns Hopkins Hosp. 1965 Jun;116:396-402.
6
[Behavior of the ring chromosomes in mitosis and miosis in Antirrhinum majus L].[金鱼草有丝分裂和减数分裂中环染色体的行为]
Chromosoma. 1959;10(2):144-62. doi: 10.1007/BF00396568.
7
Pairing at the chromosomal level.
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The G deletion syndromes.G缺失综合征
J Pediatr. 1970 Oct;77(4):658-63. doi: 10.1016/s0022-3476(70)80209-8.
9
Comparative behavior of ring chromosomes.环状染色体的比较行为
Am J Hum Genet. 1970 May;22(3):304-18.
10
[Familial mosaicism with G ring].[伴有G环的家族性嵌合体]
Humangenetik. 1969;7(4):275-86. doi: 10.1007/BF00283550.