常染色体全臂易位的家族性传递。 - Suppr

Suppr

超能文献

Familial transmission of autosomal whole arm translocation.

作者信息

Fryns J P, Kleczkowska A, Van den Berghe H

机构信息

Center for Human Genetics, University of Leuven, Belgium.

出版信息

J Med Genet. 1988 Nov;25(11):783-4. doi: 10.1136/jmg.25.11.783.

DOI:10.1136/jmg.25.11.783

PMID:3236360

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051589/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4787/1051589/4cb39e186248/jmedgene00073-0063-a.jpg

相似文献

Familial transmission of autosomal whole arm translocation.常染色体全臂易位的家族性传递。

J Med Genet. 1988 Nov;25(11):783-4. doi: 10.1136/jmg.25.11.783.

Trisomy 6qter resulting from a familial (6;10) (q23;q26) translocation.

J Genet Hum. 1986 Aug;34(3-4):327-30.

A familial unbalanced subtelomeric translocation resulting in monosomy 6q27-->qter.一种家族性不平衡亚端粒易位，导致6号染色体长臂27区至末端单体。

J Med Genet. 2003 Apr;40(4):e48. doi: 10.1136/jmg.40.4.e48.

Prenatal diagnosis of a satellited non-acrocentric chromosome derived from a maternal translocation (10;13)(p13;p12) and review of literature.一例源自母亲染色体易位（10；13）（p13；p12）的带有随体的非近端着丝粒染色体的产前诊断及文献复习

Prenat Diagn. 1999 Mar;19(3):282-6.

Reproductive outcome of a case with familial balanced translocation t(3;6): implications for genetic counseling.一例家族性平衡易位t(3;6)患者的生殖结局：对遗传咨询的启示

Genet Mol Res. 2015 Mar 31;14(1):2809-15. doi: 10.4238/2015.March.31.11.

Familial agnathia-holoprosencephaly caused by an inherited unbalanced translocation and not autosomal recessive inheritance.由遗传性不平衡易位而非常染色体隐性遗传引起的家族性无颌畸形-前脑无裂畸形。

Am J Med Genet. 1989 Oct;34(2):255-7. doi: 10.1002/ajmg.1320340227.

Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs.通过高分辨率显带和荧光原位杂交（FISH）对涉及3号染色体长臂、6号染色体长臂和15号染色体长臂的家族性三向易位进行分析，结果显示两个同胞具有两种不同的不平衡核型。

J Med Genet. 1998 Jul;35(7):545-53. doi: 10.1136/jmg.35.7.545.

Supravalvular aortic stenosis cosegregates with a familial 6; 7 translocation which disrupts the elastin gene.瓣上主动脉狭窄与一种家族性6；7易位共同分离，该易位破坏了弹性蛋白基因。

Am J Med Genet. 1993 Jul 1;46(6):737-44. doi: 10.1002/ajmg.1320460634.

Variant translocation t(6;10)(p21;q22) in pulmonary chondroid hamartoma.肺软骨样错构瘤中的变异易位t(6;10)(p21;q22)

Genes Chromosomes Cancer. 1996 Apr;15(4):246-8. doi: 10.1002/(SICI)1098-2264(199604)15:4<246::AID-GCC6>3.0.CO;2-1.

Two cases of partial trisomy 10q syndrome due to a familial 10;20 translocation.两例因家族性10;20易位导致的10q部分三体综合征病例。

Genet Couns. 2000;11(4):355-61.

引用本文的文献

Study on The Pedigrees of Three Cases of Whole-Arm Translocation in Hainan China and Literature Review: A Retrospective Study.中国海南三例全臂易位家系研究及文献复习：一项回顾性研究

Int J Fertil Steril. 2023 Nov 7;18(1):81-86. doi: 10.22074/ijfs.2023.548275.1257.

本文引用的文献

Identification of translocation chromosomes by quinacrine fluorescence.用喹吖因荧光法鉴定易位染色体。

Am J Dis Child. 1972 Jun;123(6):561-4. doi: 10.1001/archpedi.1972.02110120085007.

Autosomal whole arm translocations in man. A patient with t(5p7p;5q7q) type rearrangement and review of the literature.人类常染色体全臂易位。一名患有t(5p7p;5q7q)型重排的患者及文献综述。

Clin Genet. 1986 Jul;30(1):72-5.

Balanced reciprocal whole-arm translocation t(1;19) in three generations.

Hum Genet. 1978 Jun 27;42(3):349-52. doi: 10.1007/BF00291319.

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