• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

一位正常母亲发生5;7、5;12双相互易位，其正常孩子发生5;7易位并带有一条重组5号染色体。

A 5;7, 5;12 double reciprocal translocation in a normal mother and a 5;7 translocation with a recombinant chromosome 5 in her normal child.

作者信息

Tabor A, Jensen L K, Lundsteen C, Niebuhr E

出版信息

J Med Genet. 1981 Aug;18(4):307-9. doi: 10.1136/jmg.18.4.307.

DOI:10.1136/jmg.18.4.307
PMID:7277428
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1048740/
Abstract

A phenotypically normal mother had two apparently balanced translocations involving chromosomes 5, 7, and 12. Her karyotype was 46,XX,t(5;7) (5;12) (p14q34;p14;q21), while her daughter, who was also phenotypically normal, had inherited only one of the translocations. Her karyotype was 46,XX,-5,-7,+rec(5)t(5;7) (q34;p14)mat,+der(7)t(5;7) (q34;p14)mat. The other was lost during a meiotic crossing over, giving the daughter an apparently balanced chromosome complement.

摘要

一位表型正常的母亲有两个涉及5号、7号和12号染色体的明显平衡易位。她的核型为46,XX,t(5;7)(5;12)(p14q34;p14;q21)，而她同样表型正常的女儿只遗传了其中一个易位。她的核型为46,XX,-5,-7,+rec(5)t(5;7)(q34;p14)mat,+der(7)t(5;7)(q34;p14)mat。另一个在减数分裂交叉过程中丢失了，使女儿具有明显平衡的染色体组成。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec20/1048740/262c12f663d6/jmedgene00120-0066-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec20/1048740/94787b1b0360/jmedgene00120-0065-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec20/1048740/262c12f663d6/jmedgene00120-0066-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec20/1048740/94787b1b0360/jmedgene00120-0065-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec20/1048740/262c12f663d6/jmedgene00120-0066-a.jpg

相似文献

1
A 5;7, 5;12 double reciprocal translocation in a normal mother and a 5;7 translocation with a recombinant chromosome 5 in her normal child.一位正常母亲发生5;7、5;12双相互易位，其正常孩子发生5;7易位并带有一条重组5号染色体。
J Med Genet. 1981 Aug;18(4):307-9. doi: 10.1136/jmg.18.4.307.
2
Identical chromosome imbalance in two siblings born to a mother with a double reciprocal translocation.
Ann Genet. 1997;40(4):232-4.
3
Double partial trisomy of 6p23-pter and 9pter-q21.2 in a neonate resulting from 4:2 meiotic segregation of a maternal complex t(6;7;9)(p23;p15;q21.2) translocation.一名新生儿因母亲复杂的t(6;7;9)(p23;p15;q21.2)易位发生4:2减数分裂分离，导致6p23 - pter和9pter - q21.2双部分三体。
Genet Couns. 2012;23(2):239-47.
4
Meiotic behaviour of two human reciprocal translocations.两种人类相互易位的减数分裂行为。
J Med Genet. 1981 Oct;18(5):362-5. doi: 10.1136/jmg.18.5.362.
5
47,XX,+der(18),t(9;18)(p24;q21) mat: a distinct partial trisomy 18q--syndrome?47，XX，+der(18)，t(9;18)(p24;q21) 母源：一种独特的18q部分三体综合征？
J Med Genet. 1978 Oct;15(5):391-5. doi: 10.1136/jmg.15.5.391.
6
[Double autosomal aberration: trisomy 21 and familial reciprocal translocation t(10;12)(p14;q21)].
Tsitologiia. 1977 Nov;19(11):1291-6.
7
Familial complex chromosome rearrangement giving rise to balanced and unbalanced recombination products.导致平衡和不平衡重组产物的家族性复杂染色体重排。
Am J Med Genet. 1998 Aug 27;79(1):30-4.
8
Mental retardation with 45 chromosomes 45,XX,--5,--14,+der(5) t(5,14)(p15;q13) mat due to familial balanced reciprocal translocation.因家族性平衡易位导致的45条染色体的智力发育迟缓，核型为45,XX,--5,--14,+der(5) t(5,14)(p15;q13)，源自母亲。
J Med Genet. 1977 Feb;14(1):68-72. doi: 10.1136/jmg.14.1.68.
9
Replication pattern of the X chromosomes in three X/autosomal translocations.
Cytogenet Cell Genet. 1977;18(6):333-48. doi: 10.1159/000130780.
10
Maternal translocation (9;18) with two abnormal offspring each with different chromosome derivatives.母亲发生（9；18）易位，育有两个异常后代，每个后代具有不同的染色体衍生物。
J Med Genet. 1989 Oct;26(10):655-8. doi: 10.1136/jmg.26.10.655.

引用本文的文献

1
Complex chromosomal rearrangements in female carriers experiencing recurrent pregnancy loss or poor obstetric history and literature review.反复妊娠丢失或产科病史不良的女性携带者中的复杂染色体重排及文献综述
J Assist Reprod Genet. 2025 Jan;42(1):39-62. doi: 10.1007/s10815-024-03316-1. Epub 2024 Nov 15.
2
A complex rearrangement involving three autosomes in a phenotypically normal male presenting with sterility.一名表现为不育的表型正常男性中涉及三条常染色体的复杂重排。
J Med Genet. 1982 Oct;19(5):375-7. doi: 10.1136/jmg.19.5.375.
3
Down's syndrome with a recombinant tandem duplication of chromosome 21 derived from a maternal ring.

本文引用的文献

1
A family with two translocations and a polymorphism involving chromosome 14.一个涉及14号染色体的具有两个易位和一个多态性的家系。
J Med Genet. 1974 Mar;11(1):65-8. doi: 10.1136/jmg.11.1.65.
2
[2 familial translocations occurring together in each of 2 sisters, one balanced, the other partial trisomic 10q].
Ann Genet. 1972 Jun;15(2):85-92.
3
Two reciprocal translocations associated with microcephaly and retardation.与小头畸形和智力迟钝相关的两个相互易位。
J Med Genet. 1977 Apr;14(2):141-2. doi: 10.1136/jmg.14.2.141.
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.
4
Familial complex autosomal translocations involving chromosomes 7, 8, and 9 exhibiting male and female transmission with segregation and recombination.涉及7号、8号和9号染色体的家族性复杂常染色体易位，呈现男女传递，并伴有分离和重组。
J Med Genet. 1985 Dec;22(6):484-91. doi: 10.1136/jmg.22.6.484.
5
Complex chromosomal rearrangement and multiple spontaneous abortions.复杂染色体重排与多次自然流产。
Hum Genet. 1986 Nov;74(3):326. doi: 10.1007/BF00282560.
4
10p- syndrome associated with multiple chromosomal abnormalities.与多种染色体异常相关的10p-综合征
Hum Genet. 1978 Dec 18;45(2):229-35. doi: 10.1007/BF00286969.
5
Double translocation t(7;12),t(2;6) heterozygosity in one family. A contribution to the trisomy 12p syndrome.
Hum Genet. 1978 Jan 19;40(2):135-47. doi: 10.1007/BF00272294.
6
Two balanced translocations in three generations of a pedigree: t(7;10) (q11;q22) and t(14;21) (14qter to cen to 21qter)1.一个家系三代人中出现的两个平衡易位：t(7;10)(q11;q22) 和 t(14;21)(14qter 至 cen 至 21qter)1 。
J Med Genet. 1979 Jun;16(3):215-8. doi: 10.1136/jmg.16.3.215.