Two Siblings With Similar Phenotypes-Reference-Cited by-同舟云学术

Two Siblings With Similar Phenotypes

Published:2012-11-27 Issue:1 Volume:44 Page:58-61
ISSN:1550-0594
Container-title:Clinical EEG and Neuroscience
language:en
Short-container-title:Clin EEG Neurosci

Author:

Tezer F. Irsel¹,Aktas Dilek²,Alikasifoglu Mehmet²,Saygi Serap¹

Affiliation:

1. Department of Neurology, Hacettepe University, Faculty of Medicine, Ankara, Turkey

2. Department of Genetics, Hacettepe University, Faculty of Medicine, Ankara, Turkey

Abstract

We present the electroclinical features and cytogenetic findings of 2 siblings with the ring 20 chromosome (r(20)) phenotype, one of which had r(20) mosaicism. A history of epilepsy or learning problems should be determined in family members, although these relatives had no ring formation in chromosome 20. Whether the clinical features result from possible deletions or ring formation is discussed.

Publisher

SAGE Publications

Subject

Clinical Neurology,Neurology,General Medicine

Link

http://journals.sagepub.com/doi/pdf/10.1177/1550059412451700

Reference16 articles.

1. A ring-20 chromosome.

2. Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome

3. Characteristic EEG findings in ring 20 syndrome as a diagnostic clue

4. Early Pattern of Epilepsy in the Ring Chromosome 20 Syndrome

5. Mosaicism and phenotype in ring chromosome 20 syndrome

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Reflex seizures with hot water and recurrent nonconvulsive status epilepticus in a patient with triple mosaicism and ring formation of chromosome 20;Neurological Sciences and Neurophysiology;2022

2. Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes;Frontiers in Neurology;2020-12-08

3. Specificity of electroclinical features in the diagnosis of ring chromosome 20;Epilepsy & Behavior;2018-03