Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3
Joint Authors
Evangelidou, Paola
Alexandrou, Angelos
Anastasiadou, Violetta
Nikolaou, Elpiniki
Christou, Yiolanda
Papacostas, Savvas S.
Tanteles, George A.
Sismani, Carolina
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-07-29
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
We report on a 29-year-old Greek-Cypriot female with a de novo 6.3 Mb distal 10q26.2q26.3 deletion.
She had a very mild neurocognitive phenotype with near normal development and intellect.
In addition, she had certain distinctive features and postural orthostatic tachycardia.
We review the relevant literature and postulate that certain of her features can be diagnostically relevant.
This report illustrates the powerful diagnostic ability of array-CGH in the elucidation of relatively mild phenotypes.
American Psychological Association (APA)
Tanteles, George A.& Nikolaou, Elpiniki& Christou, Yiolanda& Alexandrou, Angelos& Evangelidou, Paola& Anastasiadou, Violetta…[et al.]. 2015. Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3. Case Reports in Genetics،Vol. 2015, no. 2015, pp.1-5.
https://search.emarefa.net/detail/BIM-1058503
Modern Language Association (MLA)
Tanteles, George A.…[et al.]. Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3. Case Reports in Genetics No. 2015 (2015), pp.1-5.
https://search.emarefa.net/detail/BIM-1058503
American Medical Association (AMA)
Tanteles, George A.& Nikolaou, Elpiniki& Christou, Yiolanda& Alexandrou, Angelos& Evangelidou, Paola& Anastasiadou, Violetta…[et al.]. Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3. Case Reports in Genetics. 2015. Vol. 2015, no. 2015, pp.1-5.
https://search.emarefa.net/detail/BIM-1058503
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1058503
