11号染色体与22号染色体易位：43例病例的欧洲协作分析 - Suppr

Suppr

超能文献

The 11q;22q translocation: a European collaborative analysis of 43 cases.

作者信息

Fraccaro M, Lindsten J, Ford C E, Iselius L

出版信息

Hum Genet. 1980;56(1):21-51. doi: 10.1007/BF00281567.

DOI:10.1007/BF00281567

PMID:7203479

Abstract

摘要

相似文献

The 11q;22q translocation: a European collaborative analysis of 43 cases.11号染色体与22号染色体易位：43例病例的欧洲协作分析

Hum Genet. 1980;56(1):21-51. doi: 10.1007/BF00281567.

The 11q;22q translocation: a collaborative study of 20 new cases and analysis of 110 families.11号染色体与22号染色体易位：20例新病例的合作研究及110个家庭的分析

Hum Genet. 1983;64(4):343-55. doi: 10.1007/BF00292366.

[Partial trisomy 11q;22q (author's transl)].11q；22q部分三体（作者译）

An Esp Pediatr. 1981 Sep;15(3):293-300.

Trisomy 11q(q21 leads to qter).11号染色体长臂三体（q21至qter）

Birth Defects Orig Artic Ser. 1978;14(6C):383-92.

Two reciprocal translocations t(9p+;13q-) and t(13q-;21q+): a study of the families.两个相互易位t(9p+;13q-)和t(13q-;21q+)：家族研究

Hum Genet. 1980;54(1):7-11. doi: 10.1007/BF00279042.

Partial trisomy 7p associated with familial 7p;22q translocation.与家族性7号染色体短臂；22号染色体长臂易位相关的7号染色体短臂部分三体性

J Med Genet. 1977 Aug;14(4):258-61. doi: 10.1136/jmg.14.4.258.

22q- and 8q- in a non-Burkitt lymphoma.

Cancer Genet Cytogenet. 1983 Jan;8(1):91-2. doi: 10.1016/0165-4608(83)90069-9.

[Trisomy 10p as a result of familial 10/22 translocation].[由于家族性10/22易位导致的10号染色体短臂三体]

Acta Med Iugosl. 1980;34(2):113-22.

Precise location of breakpoints in a frequent reciprocal translocation between chromosomes 11 and 22.11号和22号染色体之间常见相互易位中断点的精确位置。

J Hered. 1986 Jan-Feb;77(1):63-4. doi: 10.1093/oxfordjournals.jhered.a110175.

Trisomy 9p and unusual translocation mongolism in siblings due to different 3:1 segregations of maternal translocation rcp(9;21)(p11;q11).由于母亲的相互易位rcp(9;21)(p11;q11)出现不同的3:1分离，导致兄弟姐妹中出现9号染色体短臂三体和异常易位型唐氏综合征。

Hum Genet. 1978 Jun 27;42(3):251-6. doi: 10.1007/BF00291304.

引用本文的文献

Functional and clinical insights into nuclear receptor variants for advancing precision diagnostics in male infertility.核受体变体在男性不育精准诊断中的功能与临床见解

EBioMedicine. 2025 Aug 28;119:105899. doi: 10.1016/j.ebiom.2025.105899.

Prenatal cfDNA Screening for Emanuel Syndrome and Other Unbalanced Products of Conception in Carriers of the Recurrent Balanced Translocation t(11;22): One Laboratory's Retrospective Experience.携带者复发性平衡易位 t(11;22)的产前 cfDNA 筛查：一个实验室的回顾性经验

Genes (Basel). 2023 Oct 10;14(10):1924. doi: 10.3390/genes14101924.

Reproductive Risk Estimation Calculator for Balanced Translocation Carriers.平衡易位携带者生殖风险估算计算器。

Curr Protoc. 2022 Dec;2(12):e633. doi: 10.1002/cpz1.633.

Double strand breaks (DSBs) as indicators of genomic instability in PATRR-mediated translocations.作为 PATRR 介导的易位中基因组不稳定性的指标的双链断裂 (DSBs)。

Hum Mol Genet. 2021 Feb 25;29(24):3872-3881. doi: 10.1093/hmg/ddaa251.

The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans.斯里兰卡人群中染色体易位的频率和频谱。

Biomed Res Int. 2019 Apr 2;2019:9797104. doi: 10.1155/2019/9797104. eCollection 2019.

Phenotypic characterization of derivative 22 syndrome: case series and review.22号染色体衍生综合征的表型特征：病例系列报道及文献综述

J Genet. 2018 Mar;97(1):205-211.

Intravascular Large B-cell Lymphoma of the Bilateral Ovaries and Uterus in an Asymptomatic Patient with a t(11;22)(q23;q11) Constitutional Translocation.一名无症状患者双侧卵巢和子宫的血管内大B细胞淋巴瘤伴t(11;22)(q23;q11) 染色体易位。

Intern Med. 2016;55(21):3169-3174. doi: 10.2169/internalmedicine.55.6578. Epub 2016 Nov 1.

Impaired function of trophoblast cells derived from translocated hESCs may explain pregnancy loss in women with balanced translocation (11;22).源自易位人胚胎干细胞的滋养层细胞功能受损，可能解释了平衡易位（11；22）女性的妊娠丢失。

J Assist Reprod Genet. 2016 Nov;33(11):1493-1499. doi: 10.1007/s10815-016-0781-6. Epub 2016 Aug 8.

Small supernumerary marker chromosomes and their correlation with specific syndromes.小额外标记染色体及其与特定综合征的相关性。

Adv Biomed Res. 2015 Jul 27;4:140. doi: 10.4103/2277-9175.161542. eCollection 2015.

Anesthetic management of pediatric patients with Emanuel syndrome.患有 Emanuel 综合征的儿科患者的麻醉管理。

J Anesth. 2015 Jun;29(3):450-452. doi: 10.1007/s00540-014-1955-y. Epub 2015 Jan 21.

本文引用的文献

MONGOLISM AND OTHER ABNORMALITIES IN A FAMILY WITH TRISOMY 21-22 TENDENCY.

Acta Paediatr Suppl (Upps). 1963:SUPPL146:77-91. doi: 10.1111/j.1651-2227.1963.tb05520.x.

A deleted extra chromosome 22 identified by DNA replication banding.通过DNA复制显带鉴定出的一条缺失的额外22号染色体。

Hum Genet. 1980;53(3):323-6. doi: 10.1007/BF00287050.

Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction.在几个不相关的家族中出现特定部位的相互易位，即t(11;22) (q23;q11)，伴有3:1减数分裂分离。

Am J Med Genet. 1980;7(4):507-21. doi: 10.1002/ajmg.1320070412.

[Partial trisomy of the long arm of the chromosme 11 by malsegregation of a maternal translocation t(11;22)(q23 1;q1 11)].[因母源11号与22号染色体相互易位t(11;22)(q23 1;q1 11)错分导致的11号染色体长臂部分三体]

Ann Genet. 1976 Jun;19(2):137.

[Trisomy 11 q (q23.1 - qter) through maternal translocation t(11;22) (q23.1;q11.1). A new case].[通过母亲的t(11;22)(q23.1;q11.1)易位导致的11号染色体长臂三体(q23.1 - qter)。1例新病例]

Ann Genet. 1976 Mar;19(1):65-8.

[Trisomy 11q. Individualization of a new syndrome].[11q三体。一种新综合征的个体化研究]

Ann Genet. 1975 Sep;18(3):189-91.

[2 cases of trisomy 11q(q231--qter) by translocation t(11;22) (q231;q111) in 2 different families].[两个不同家庭中因t(11;22)(q231;q111)易位导致的11q(q231-qter)三体综合征2例]

Ann Genet. 1975 Sep;18(3):185-8.

[2 cases of trisomy 11q(q23.2-- qter) with the same abnormality of external genitalia].2例11号染色体长臂（q23.2-qter）三体伴相同外生殖器异常

Ann Genet. 1975 Sep;18(3):179-84.

Evidence that chromosome band 22q12 is concerned with cell proliferation in chronic myeloid leukaemia.有证据表明，22号染色体q12带与慢性粒细胞白血病的细胞增殖有关。

Hum Genet. 1976 Aug 30;33(3):269-74. doi: 10.1007/BF00286851.

Structural aberrations of the long arm of chromosome no. 22. Report fo a family with translocation t(11;22) (q25;q11).

Clin Genet. 1976 Dec;10(6):329-36. doi: 10.1111/j.1399-0004.1976.tb00057.x.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验