Intellectual disability; an example of not relying on karyotype or array comparative genomic hybridization alone

Intellectual disability (ID) is a heterogeneous disorder which could have different etiologies. Among these etiologies, genetic causes are important issues. Genetic and pediatric guidelines have suggested using comparative genomic hybridization (CGH) as the first tire test for the diagnosis of such...

Full description

Saved in:
Bibliographic Details
Published in:Meta Gene 2020-06, Vol.24, p.100666, Article 100666
Main Authors: Khadivi zand, Farhad, Shariati, Mohammad, Sabeti Aghabozorgi, Amirsaeed, Saberi, Sohelia, Khatib Astaneh, Haniyeh, Ahmadzadeh, Atefeh, Samie, Zohreh, Ansari, Parisa, Sadr-Nabavi, Ariane, Jafarzadeh-Esfehani, Reza
Format: Article
Language:English
Subjects:
Comparative genomic hybridization
Intellectual disability
Karyotype
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Intellectual disability (ID) is a heterogeneous disorder which could have different etiologies. Among these etiologies, genetic causes are important issues. Genetic and pediatric guidelines have suggested using comparative genomic hybridization (CGH) as the first tire test for the diagnosis of such patients. However, in some ID cases such as our patient, we have demonstrated that considering both CGH array and karyotyping without any superiority would be beneficial. In the present report, we demonstrated an ID patient with rare chromosomal abnormalities reported in both conventional karyotype and CGH array.
ISSN:2214-5400
2214-5400
DOI:10.1016/j.mgene.2020.100666