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

Publication date: Available online 7 February 2020Source: Meta GeneAuthor(s): Farhad Khadivi zand, Mohammad Shariati, Amirsaeed Sabeti Aghabozorgi, Sohelia Saberi, Haniyeh Khatib Astaneh, Atefeh Ahmadzadeh, Zohreh Samie, Parisa Ansari, Ariane Sadr Nabavi, Reza Jafarzadeh-EsfehaniAbstractIntellectual 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.
Source: Meta Gene - Category: Genetics & Stem Cells Source Type: research