Ontology highlight
ABSTRACT:
SUBMITTER: Urel-Demir G
PROVIDER: S-EPMC7109379 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
Ürel-Demir Gizem G Akgün-Doğan Özlem Ö Oğuz Sümeyra S Güleray-Lafcı Naz N Şimşek-Kiper Pelin Özlem PÖ Eda Utine Gülen G Alikaşifoğlu Mehmet M Boduroğlu Koray K
Molecular syndromology 20200114 1
Copy number variations in subtelomeric regions of chromosomes 17 and 20 are associated with intellectual disability and various systemic manifestations. Microarray analysis allows identification of submicroscopic chromosomal abnormalities and is applicable to elucidate the etiology of cognitive impairment in approximately one-fifth of the cases. In the present study, we report on 3 male children from 2 sisters, who suffered from intellectual disability, facial dysmorphism, and epilepsy. Despite ...[more]