Literature DB >> 23590959

Chromosome 10q deletion del (10)(q26.1q26.3) is associated with cataract.

Yu-Tzu Chang1, I-Ching Chou, Chung-Hsing Wang, Zheng-Nan Chin, Huang-Tsung Kuo, Chyi-Chyang Lin, Chang-Hai Tsai, Fuu-Jen Tsai.   

Abstract

Distal 10q deletion syndrome is an uncommon chromosomal disorder. Interstitial deletion involving bands 10q25-10q26.1 is extremely rare and few cases have been reported. The characteristic features are facial dysmorphisms, postnatal growth retardation, developmental delay, congenital heart disease, genitourinary anomalies, digital anomalies, and strabismus. We report for the first time a patient with de novo 10q interstitial deletion del (10)(q26.1q26.3) and cataract.
Copyright © 2012. Published by Elsevier B.V.

Entities:  

Mesh:

Year:  2012        PMID: 23590959     DOI: 10.1016/j.pedneo.2012.10.010

Source DB:  PubMed          Journal:  Pediatr Neonatol        ISSN: 1875-9572            Impact factor:   2.083


  4 in total

1.  Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.

Authors:  Nancy Choucair; Joelle Abou Ghoch; Sandra Corbani; Pierre Cacciagli; Cecile Mignon-Ravix; Nabiha Salem; Nadine Jalkh; Sandra El Sabbagh; Ali Fawaz; Tony Ibrahim; Laurent Villard; André Mégarbané; Eliane Chouery
Journal:  Mol Cytogenet       Date:  2015-04-09       Impact factor: 2.009

2.  Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3.

Authors:  George A Tanteles; Elpiniki Nikolaou; Yiolanda Christou; Angelos Alexandrou; Paola Evangelidou; Violetta Christophidou-Anastasiadou; Carolina Sismani; Savvas S Papacostas
Journal:  Case Rep Genet       Date:  2015-07-29

3.  An interstitial deletion at 10q26.2q26.3.

Authors:  Ivan Y Iourov; Svetlana G Vorsanova; Oxana S Kurinnaia; Yuri B Yurov
Journal:  Case Rep Genet       Date:  2014-02-06

Review 4.  Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion.

Authors:  Anudeep Yekula; Connor Grant; Mihir Gupta; David R Santiago-Dieppa; Pate J Duddleston; David Gonda; Michael Levy
Journal:  Childs Nerv Syst       Date:  2020-05-12       Impact factor: 1.475

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.