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。 - Suppr | 超能文献

Autosomal whole arm translocations in man. A patient with t(5p7p;5q7q) type rearrangement and review of the literature.

作者信息

Kleczkowska A, Fryns J P, van den Berghe H

出版信息

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

Abstract

摘要

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。

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

文档翻译

学术文献翻译模型，支持多种主流文档格式。

相似文献

1

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.

2

Child with Sotos phenotype and a 5:15 translocation.患有索托斯综合征表型且有5:15易位的儿童。

Am J Med Genet. 1994 Apr 15;50(3):291-3. doi: 10.1002/ajmg.1320500313.

3

Partial trisomy 17p12pter, associated with pre and postnatal growth retardation, dysmorphic facial and digital features, developmental delay, and signs of HMSN1 in early childhood.17p12至染色体末端部分三体综合征，与出生前后生长发育迟缓、面部及手指畸形特征、发育迟缓以及幼儿期遗传性运动感觉神经病1型体征相关。

Eur J Med Genet. 2006 Sep-Oct;49(5):439-43. doi: 10.1016/j.ejmg.2006.01.002. Epub 2006 Feb 3.

4

Duplication 7p in a family with t(7;11): association with anomalies of the anterior cranial base.

Am J Med Genet. 1987 Jul;27(3):687-92. doi: 10.1002/ajmg.1320270323.

5

Complex chromosome rearrangements and congenital anomalies.复杂染色体重排与先天性异常。

Am J Med Genet. 1987 Apr;26(4):771-82. doi: 10.1002/ajmg.1320260403.

6

Balanced nonacrocentric whole-arm reciprocal translocations: a de novo case and literature review.平衡的非近端着丝粒全臂相互易位：一例新发病例及文献综述

Am J Med Genet. 1995 Feb 13;55(4):423-6. doi: 10.1002/ajmg.1320550408.

7

A dominantly inherited syndrome (microcephaly, short stature, peculiar facies, mental retardation) associated with two balanced rearrangements involving chromosomes 2;7 and 5;20.一种显性遗传综合征（小头畸形、身材矮小、特殊面容、智力迟钝），与涉及2号和7号染色体以及5号和20号染色体的两个平衡重排相关。

Hum Genet. 1988 Aug;79(4):385-8. doi: 10.1007/BF00282184.

8

A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype.2q37区域的一组易位断点与具有相似过度生长表型的患者中NPPC的过表达相关。

Hum Mutat. 2007 Dec;28(12):1183-8. doi: 10.1002/humu.20611.

9

Isochromosome-formation in chromosome 9.

Ann Genet. 1994;37(2):78-81.

10

Trisomy 14 mosaicism with t(14;15)(q11;p11) in offspring of a balanced translocation carrier mother.平衡易位携带者母亲的后代中出现14三体嵌合体并伴有t(14;15)(q11;p11)

Am J Med Genet. 1985 Oct;22(2):333-42. doi: 10.1002/ajmg.1320220217.

引用本文的文献

1

Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients.Silver-Russell综合征的生长发育与症状：基于386例患者的综述

Eur J Pediatr. 1995 Dec;154(12):958-68. doi: 10.1007/BF01958638.

2

Balanced reciprocal whole arm translocation t(3;9): analysis by fluorescence in situ hybridisation.平衡相互性全臂易位t(3;9)：荧光原位杂交分析

J Med Genet. 1994 Jan;31(1):74-5. doi: 10.1136/jmg.31.1.74.

3

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.