Literature DB >> 2729354

Duplication of distal 22q.

D Abeliovich1, E Maor, N Bashan, R Carmi.   

Abstract

We report on three patients with duplication of distal 22q. One patient is a de novo carrier of the translocation t(21;22) (p13;q11), the other two are offspring of a translocation carrier t(10;22) (q26;q12). The clinical manifestations of these patients demonstrate the variability of the dup(22q) syndrome.

Entities:  

Mesh：

Year:  1989        PMID： 2729354     DOI： 10.1002/ajmg.1320320314

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


  3 in total

1.  Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion.

Authors:  V P Prasher; E Roberts; A Norman; A C Butler; V H Krishnan; D J McMullan
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

2.  SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement.

Authors:  Chiara Magri; Eleonora Marchina; Valeria Bertini; Michele Traversa; Giulia Savio; Alba Pilotta; Giovanna Piovani
Journal:  BMC Med Genet       Date:  2015-07-07       Impact factor: 2.103

Review 3.  Developmentally regulated GTPases: structure, function and roles in disease.

Authors:  Christian A E Westrip; Qinqin Zhuang; Charlotte Hall; Charlotte D Eaton; Mathew L Coleman
Journal:  Cell Mol Life Sci       Date:  2021-10-19       Impact factor: 9.261
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.