Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases
Author
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-01-28
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Epigenetic abnormalities in 15q11-13 imprinted region and UBE3A mutation are the two major mechanisms for molecularly confirmed Angelman Syndrome.
However, there is 10% of clinically diagnosed Angelman Syndrome remaining test negative.
With the advancement of genomic technology like array comparative genomic hybridization and next generation sequencing methods, it is found that some patients of these test negative Angelman-like Syndromes actually have alternative diagnoses.
Accurate molecular diagnosis is paramount for genetic counseling and subsequent management.
Despite overlapping phenotypes between Angelman and Angelman-like Syndrome, there are some subtle but distinct features which could differentiate them clinically.
It would provide important clue during the diagnostic process for clinicians.
American Psychological Association (APA)
Ho-Ming, Luk. 2016. Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases. Case Reports in Genetics،Vol. 2016, no. 2016, pp.1-6.
https://search.emarefa.net/detail/BIM-1100763
Modern Language Association (MLA)
Ho-Ming, Luk. Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases. Case Reports in Genetics No. 2016 (2016), pp.1-6.
https://search.emarefa.net/detail/BIM-1100763
American Medical Association (AMA)
Ho-Ming, Luk. Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases. Case Reports in Genetics. 2016. Vol. 2016, no. 2016, pp.1-6.
https://search.emarefa.net/detail/BIM-1100763
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1100763