Literature DB >> 9007331

Unbalanced karyotype, dup 14(q13-q22), in a mother and her two children.

M L Pot1, J C Giltay, A van Wilsen, E J Breslau-Siderius.   

Abstract

A duplication of chromosome 14(q13-q22) caused mild mental retardation and some dysmorphic features in two children and their mother. The unbalanced karyotype did not affect the fertility of the mother. Fluorescent in situ hybridization, with a chromosome 14 specific paint, was used to confirm that the inserted material was from chromosome 14.

Entities:  

Mesh：

Year:  1996        PMID： 9007331     DOI： 10.1111/j.1399-0004.1996.tb02395.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  3 in total

1.  Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations.

Authors:  I A Glass; P Stormer; P T Oei; E Hacking; P D Cotter
Journal:  J Med Genet       Date:  1998-04       Impact factor: 6.318

Review 2.  Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

Authors:  J C K Barber
Journal:  J Med Genet       Date:  2005-08       Impact factor: 6.318

3.  Systemic Inflammatory Markers for Predicting Overall Survival in Patients with Osteosarcoma: A Systematic Review and Meta-Analysis.

Authors:  Xiaotong Song; Hao Zhang; Fanxing Yin; Panpan Guo; Xiaocheng Yang; Jinzhu Liu; Yanshuo Han; Zhaozhou Ren
Journal:  Mediators Inflamm       Date:  2021-10-21       Impact factor: 4.711
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.