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Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations.

作者信息

Francke U

出版信息

Am J Hum Genet. 1972 Mar;24(2):189-213.

PMID:5016511
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1762196/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acf6/1762196/fd9c945e4169/ajhg00453-0100-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acf6/1762196/9e988d39abf5/ajhg00453-0088-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acf6/1762196/7fc78405e2ac/ajhg00453-0090-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acf6/1762196/23a15a4e890a/ajhg00453-0091-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acf6/1762196/e91717243bef/ajhg00453-0092-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acf6/1762196/17d8fe69353c/ajhg00453-0095-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acf6/1762196/7532504db8f6/ajhg00453-0097-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acf6/1762196/29f4b1f51e05/ajhg00453-0098-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acf6/1762196/fd9c945e4169/ajhg00453-0100-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acf6/1762196/9e988d39abf5/ajhg00453-0088-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acf6/1762196/7fc78405e2ac/ajhg00453-0090-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acf6/1762196/23a15a4e890a/ajhg00453-0091-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acf6/1762196/e91717243bef/ajhg00453-0092-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acf6/1762196/17d8fe69353c/ajhg00453-0095-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acf6/1762196/7532504db8f6/ajhg00453-0097-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acf6/1762196/29f4b1f51e05/ajhg00453-0098-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acf6/1762196/fd9c945e4169/ajhg00453-0100-a.jpg

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Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations.人染色体的喹吖因氮芥荧光:异常易位的特征
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本文引用的文献

1
The phenomenon of position effect.位置效应现象
Adv Genet. 1950;3:73-115. doi: 10.1016/s0065-2660(08)60083-8.
2
CHROMOSOME STRUCTURE AND CROSSING OVER.染色体结构与交叉互换
Genetics. 1965 Feb;51(2):191-207. doi: 10.1093/genetics/51.2.191.
3
DNA REPLICATION PATTERNS OF HUMAN CHROMOSOMES.人类染色体的DNA复制模式
A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature.
罕见的 16q12.2q24.3 纯部分三体性描述及文献复习。
Am J Med Genet A. 2021 Oct;185(10):2903-2912. doi: 10.1002/ajmg.a.62368. Epub 2021 Jun 1.
4
Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature.因母系遗传的平衡易位 46,XX,t(15;16)(p13;q21)不平衡分离导致的 16q21➔qter 部分三体:一例报告并文献复习
BMC Pediatr. 2018 Jan 8;18(1):4. doi: 10.1186/s12887-017-0980-z.
5
Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 - qter, autism spectrum disorder and unusual features.10q远端三体综合征:1例q24.31 - qter重复、患有自闭症谱系障碍及具有异常特征患者的报告
Clin Case Rep. 2014 Oct;2(5):201-5. doi: 10.1002/ccr3.94. Epub 2014 Jul 25.
6
A novel 5p15.33-14.1 deletion and 4q34.24-35.2 duplication in a patient with mental retardation, dysmorphic features and severe speech delay.一名患有智力障碍、畸形特征和严重语言发育迟缓的患者存在一种新的5号染色体短臂15.33 - 14.1区域缺失及4号染色体长臂34.24 - 35.2区域重复。
J Genet. 2014 Apr;93(1):159-62. doi: 10.1007/s12041-014-0318-7.
7
Radiation induced DNA double strand breaks and chromosome aberrations.辐射诱导的 DNA 双链断裂和染色体畸变。
Theor Appl Genet. 1974 Jan;44(4):167-72. doi: 10.1007/BF00277015.
8
2012 William Allan Award: Adventures in cytogenetics.2012年威廉·艾伦奖:细胞遗传学领域的探索
Am J Hum Genet. 2013 Mar 7;92(3):325-37. doi: 10.1016/j.ajhg.2013.01.010.
9
Duplication of 16q22-->qter confirmed by fluorescence in situ hybridisation and molecular analysis.通过荧光原位杂交和分子分析证实16号染色体长臂2区2带至末端(16q22-->qter)存在重复。
J Med Genet. 1994 Nov;31(11):884-7. doi: 10.1136/jmg.31.11.884.
10
Balanced translocation (10;13) in a father, ascertained through the study of meiosis in semen, and partial trisomy 10q in his son. Characterization of the region responsible for the partial trisomy 10q syndrome.通过对精液减数分裂的研究确定一名父亲存在平衡易位(10;13),其儿子存在10q部分三体性。对导致10q部分三体综合征的区域进行特征分析。
Hum Genet. 1980 Feb;53(2):179-82. doi: 10.1007/BF00273492.
Cytogenetics. 1963;2:175-93. doi: 10.1159/000129778.
4
Chromosome studies in some virus infections.某些病毒感染中的染色体研究。
Hereditas. 1965;54(1):1-18. doi: 10.1111/j.1601-5223.1965.tb02003.x.
5
Autoradiographic studies of the human Y chromosome.人类Y染色体的放射自显影研究。
Chromosoma. 1971 Mar 16;32(4):364-77. doi: 10.1007/BF00285250.
6
Partial F trisomy associated with familial F-13 translocation detected and identified by parental chromosome studies.通过亲代染色体研究检测并鉴定出与家族性F-13易位相关的部分F三体。
J Pediatr. 1971 Apr;78(4):664-72. doi: 10.1016/s0022-3476(71)80471-7.
7
Manic depressive psychosis, mental retardation, and chromosomal rearrangement.
Arch Gen Psychiatry. 1970 Oct;23(4):305-9. doi: 10.1001/archpsyc.1970.01750040017003.
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Cytogenetic studies in a patient with a de novo t(Cq-;Gp+).对一名患有新发t(Cq-;Gp+)的患者进行的细胞遗传学研究。
J Med Genet. 1970 Dec;7(4):413-6. doi: 10.1136/jmg.7.4.413.
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Analysis of human metaphase chromosome set by aid of DNA-binding fluorescent agents.借助DNA结合荧光剂对人类中期染色体组进行分析。
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10
Fluorescent labeling of chromosomal DNA: superiority of quinacrine mustard to quinacrine.染色体DNA的荧光标记:喹吖因氮芥相对于喹吖因的优势
Science. 1970 Nov 13;170(3959):762. doi: 10.1126/science.170.3959.762.