Literature DB >> 8418658

Familial t(11;13)(q21;q14) and the duplication 11q, 13q phenotype.

J P Park1, M K McDermet, A M Doody, J M Marin-Padilla, J B Moeschler, D H Wurster-Hill.   

Abstract

Cases of duplication of distal 11q or proximal 13q have been reported independently. A specific translocation resulting in duplication of distal 11q, [der(22)t(11;22)(q23;q11)], has been documented in over 40 cases. We report on a male fetus with chromosomal excess of both distal 11q and proximal 13q resulting from a familial translocation. This case supports the causal association of duplication 11q with neural tube defects.

Entities:  

Mesh：

Year:  1993        PMID： 8418658     DOI： 10.1002/ajmg.1320450113

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


  8 in total

Review 1.  The influence of genetics in congenital diaphragmatic hernia.

Authors:  Lan Yu; Rebecca R Hernan; Julia Wynn; Wendy K Chung
Journal:  Semin Perinatol       Date:  2019-08-01       Impact factor: 3.300

2.  Congenital diaphragmatic hernia associated with duplication of 11q23-qter.

Authors:  M Klaassens; D A Scott; M van Dooren; R Hochstenbach; H J Eussen; W W Cai; R J Galjaard; C Wouters; M Poot; J Laudy; B Lee; D Tibboel; A de Klein
Journal:  Am J Med Genet A       Date:  2006-07-15       Impact factor: 2.802

Review 3.  Genetic causes of congenital diaphragmatic hernia.

Authors:  Julia Wynn; Lan Yu; Wendy K Chung
Journal:  Semin Fetal Neonatal Med       Date:  2014-10-28       Impact factor: 3.926

Review 4.  Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH.

Authors:  Barbara R Pober
Journal:  Am J Med Genet C Semin Med Genet       Date:  2007-05-15       Impact factor: 3.908

Review 5.  Genetic factors in congenital diaphragmatic hernia.

Authors:  A M Holder; M Klaassens; D Tibboel; A de Klein; B Lee; D A Scott
Journal:  Am J Hum Genet       Date:  2007-04-04       Impact factor: 11.025

6.  Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia.

Authors:  Margaret J Wat; Danielle Veenma; Jacob Hogue; Ashley M Holder; Zhiyin Yu; Jeanette J Wat; Neil Hanchard; Oleg A Shchelochkov; Caraciolo J Fernandes; Anthony Johnson; Kevin P Lally; Anne Slavotinek; Olivier Danhaive; Thomas Schaible; Sau Wai Cheung; Katherine A Rauen; Vijay S Tonk; Dick Tibboel; Annelies de Klein; Daryl A Scott
Journal:  J Med Genet       Date:  2011-05       Impact factor: 6.318

Review 7.  Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics.

Authors:  Giulia Cannata; Chiara Caporilli; Federica Grassi; Serafina Perrone; Susanna Esposito
Journal:  Int J Mol Sci       Date:  2021-06-14       Impact factor: 5.923

8.  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
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.