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

Autor:	Reza Jafarzadeh-Esfehani, Parisa Ansari, Mohammad Shariati, Amirsaeed Sabeti Aghabozorgi, Zohreh Samie, Farhad Khadivi zand, Ariane Sadr-Nabavi, Atefeh Ahmadzadeh, Sohelia Saberi, Haniyeh Khatib Astaneh
Rok vydání:	2020
Předmět:	0301 basic medicine Genetics Karyotype Biology medicine.disease 03 medical and health sciences 030104 developmental biology 0302 clinical medicine 030220 oncology & carcinogenesis Intellectual disability medicine Genetics (clinical) Heterogeneous disorder Comparative genomic hybridization
Zdroj:	Meta Gene. 24:100666
ISSN:	2214-5400
DOI:	10.1016/j.mgene.2020.100666
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::615e249190724c30188ebce3950d75e8 https://doi.org/10.1016/j.mgene.2020.100666 Zobrazit plný text záznamu Full Text from ScienceDirect