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6号染色体倒位重复伴HLA抗原三体共显性表达

Inversion duplication of chromosome 6 with trisomic codominant expression of HLA antigens.

作者信息

Pearson G, Mann J D, Bensen J, Bull R W

出版信息

Am J Hum Genet. 1979 Jan;31(1):29-34.

PMID:433922
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1685673/
Abstract

Trisomic codominant expression of the HLA antigens was observed in an infant with duplication of a part of 6p occurring as a result of crossing over within a paternally transmitted pericentric inversion. The HLA-A and B loci were linked absolutely with the inversion chromosome in a four generation pedigree.

摘要

在一名因父源着丝粒倒位内发生交换而导致6p部分重复的婴儿中,观察到HLA抗原的三体共显性表达。在一个四代家系中,HLA - A和B位点与倒位染色体完全连锁。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b171/1685673/d3d24889c6fe/ajhg00193-0033-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b171/1685673/d3d24889c6fe/ajhg00193-0033-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b171/1685673/d3d24889c6fe/ajhg00193-0033-a.jpg

相似文献

1
Inversion duplication of chromosome 6 with trisomic codominant expression of HLA antigens.6号染色体倒位重复伴HLA抗原三体共显性表达
Am J Hum Genet. 1979 Jan;31(1):29-34.
2
Duplication-deletion syndrome in a family with pericentric inversion of chromosome 6.一个患有6号染色体臂间倒位的家族中的重复-缺失综合征。
Clin Genet. 1980 Jul;18(1):83-7. doi: 10.1111/j.1399-0004.1980.tb01369.x.
3
HLA substantiation of a trisomic human chromosome 6.人类6号三体染色体的HLA验证
Transplant Proc. 1978 Dec;10(4):747-8.
4
Regional mapping of the HLA on the short arm of chromosome 6.6号染色体短臂上人类白细胞抗原的区域定位
Clin Genet. 1979 Mar;15(3):245-51. doi: 10.1111/j.1399-0004.1979.tb00975.x.
5
Pericentric inversion, inv(9) (p22 q32), in the father of a child with a duplication-deletion of chromosome 9 and gene dosage effect for adenylate kinase-1.在一名患有9号染色体重复-缺失且腺苷酸激酶-1存在基因剂量效应的儿童的父亲中发现了臂间倒位,inv(9)(p22 q32)。
Clin Genet. 1980 Feb;17(2):129-36. doi: 10.1111/j.1399-0004.1980.tb00121.x.
6
Duplication deficiency as the result of meiotic segregation of a maternal InV (10).由于母源10号染色体倒位(InV(10))减数分裂分离导致的重复缺失
Hum Genet. 1981;57(1):71-4. doi: 10.1007/BF00271171.
7
Partial trisomy 6p: 46,XX, -10, der(10),t(6;10) (p22;q26)pat and HLA localisation.6号染色体短臂部分三体:46,XX, -10, 10号染色体衍生染色体,t(6;10) (p22;q26)父源及HLA定位
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Cytogenetic studies in Wiskott-Aldrich syndrome: identification of a case with a 6p chromosome abnormality.威斯科特-奥尔德里奇综合征的细胞遗传学研究:一例6号染色体短臂异常病例的鉴定
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Partial trisomy 20p resulting from a recombination of a familial pericentric inversion.由家族性臂间倒位重组导致的20号染色体短臂部分三体。
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Familial pericentric inversion (10) and its effect on two offspring.家族性臂间倒位(10)及其对两个后代的影响。
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引用本文的文献

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De novo Pure Partial Trisomy 6p Associated with Facial Dysmorphism, Developmental Delay, Brain Anomalies, and Primary Congenital Hypothyroidism.与面部畸形、发育迟缓、脑异常及原发性先天性甲状腺功能减退相关的新发6p纯部分三体综合征
Mol Syndromol. 2023 Feb;14(1):35-43. doi: 10.1159/000525393. Epub 2022 Jul 6.
2
An Adolescent with a Rare Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination.一名患有罕见的6号染色体短臂三体和6号染色体短臂单体组合的青少年。
Case Rep Genet. 2020 Aug 31;2020:8857628. doi: 10.1155/2020/8857628. eCollection 2020.
3
The phenotype in de novo and familial pericentric inversion 6. A problem in karyotype-phenotype correlation.

本文引用的文献

1
A family with a presumptive C-F translocation in five generations.一个五代人中存在疑似C-F易位的家族。
Ann Genet. 1971 Mar;14(1):13-21.
2
Trisomy 21 and superoxide dismutase-1 (IPO-A). Tentative localization of sub-band 21Q22.1.21三体与超氧化物歧化酶-1(IPO-A)。21q22.1亚带的初步定位。
Exp Cell Res. 1976 Jan;97:47-55. doi: 10.1016/0014-4827(76)90653-4.
3
A 6p trisomy detected in a family with a "giant satellite".在一个有“巨大卫星”的家族中检测到6号染色体三体。
新发和家族性6号染色体臂间倒位的表型。核型与表型相关性的一个问题。
Hum Genet. 1982;61(2):167-70. doi: 10.1007/BF00274212.
4
Orientation of loci within the human major histocompatibility complex by chromosomal in situ hybridization.通过染色体原位杂交确定人类主要组织相容性复合体中基因座的定位
Proc Natl Acad Sci U S A. 1984 May;81(9):2816-20. doi: 10.1073/pnas.81.9.2816.
5
Pericentric inversions. Problems and significance for clinical genetics.臂间倒位。临床遗传学中的问题及意义。
Hum Genet. 1984;68(1):1-47. doi: 10.1007/BF00293869.
6
Partial trisomy 6p and partial trisomy 22 resulting from 3:1 meiotic disjunction of maternal (6p;22q) translocation.由母亲(6p;22q)易位的3:1减数分裂分离导致的6p部分三体和22部分三体。
J Med Genet. 1986 Apr;23(2):185-7. doi: 10.1136/jmg.23.2.185.
7
Hydatidiform mole: genetic origin in polyploid conceptuses.葡萄胎:多倍体受精卵的遗传起源。
Hum Genet. 1987 May;76(1):11-9. doi: 10.1007/BF00283043.
Humangenetik. 1975 Oct 20;30(1):63-7. doi: 10.1007/BF00273632.
4
[Localization of the gene of the glyceraldehyde 3 phosphate dehydrogenase on the distal segment of the short arm of the chromosome 12].[12号染色体短臂远端片段上3-磷酸甘油醛脱氢酶基因的定位]
Ann Genet. 1976 Jun;19(2):140-2.
5
[Increase of the LDH-B activity in a boy with 12p trisomy by malsegregation of a maternal translocation t(12;14) (q12;p11)].[一名患有12号染色体三体的男孩因母源易位t(12;14)(q12;p11)的错误分离导致乳酸脱氢酶B活性增加]
Ann Genet. 1975 Jun;18(2):81-7.
6
Trisomy 8 in the bone marrow associated with high red cell glutathione reductase activity.骨髓中8号染色体三体与红细胞谷胱甘肽还原酶活性升高有关。
Blood. 1976 May;47(5):815-26.
7
Pericentric inversion of chromosome 14 and the risk of partial duplication of 14q (14q31 leads to 14qter).14号染色体臂间倒位与14q部分重复(14q31至14q末端)的风险
Am J Med Genet. 1977;1(2):217-28. doi: 10.1002/ajmg.1320010208.