Literature DB >> 3344767

Duplication 11q and deletion 5p syndromes due to a reciprocal translocation segregating in four generations.

O Mutchinick1, Z Ramos, F Sánchez, L Ruz, R Lisker, J Ovseyevitz.   

Abstract

We report on 2 relatives with duplication 11q and deletion 5p, resulting from an adjacent-1 segregation of a balanced reciprocal translocation 5p15;11q23, segregating in 4 generations of this family. Twelve out of 16 at-risk relatives of inheriting the translocation were shown to be carriers, giving a significant (p less than .05) 3:1 ratio of carriers/noncarriers. The breakpoint on chromosome 11 at q23 is a folate sensitive fragile site into where the proto-oncogene c-ets has been mapped.

Entities:  

Mesh：

Year:  1988        PMID： 3344767     DOI： 10.1002/ajmg.1320290124

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  3 in total

1.  At least nine cases of trisomy 11q23-->qter in one generation as a result of familial t(11;13) translocation.

Authors:  D Smeets; C van Ravenswaaij; J de Pater; K Gerssen-Schoorl; J Van Hemel; G Janssen; A Smits
Journal:  J Med Genet       Date:  1997-01       Impact factor: 6.318

2.  A novel 5p15.33-14.1 deletion and 4q34.24-35.2 duplication in a patient with mental retardation, dysmorphic features and severe speech delay.

Authors:  Qinying Cao; Yuanyuan Peng; Jun Ge; Yanhua Zhang; Junzhen Zhu; Lijuan Zhao
Journal:  J Genet       Date:  2014-04       Impact factor: 1.166

3.  Clinical and molecular evaluations of siblings with "pure" 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3).

Authors:  Rongyu Chen; Chuan Li; Bobo Xie; Jin Wang; Xin Fan; Jingsi Luo; Xuyun Hu; Shaoke Chen; Yiping Shen
Journal:  Mol Cytogenet       Date:  2014-12-24       Impact factor: 2.009
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.