%0 Journal Article
%T Neurological expression of an inherited translocation of chromosomal 1 and 7
%A Amal M. AlHashem
%A Brahim M. Tabarki
%A Inesse A. Bouhjar
%A Nabil A. AlMajhad
%J Archive of "Neurosciences".
%D 2017
%R 10.17712/nsj.2017.1.20160436
%X An unbalanced translocation of chromosome 1 and 7 (t[1;7]) associated with neurological phenotype and brain malformation has rarely been reported. This clinical report describes 3 siblings with brain malformations and a 13.5 Mb duplication of 1q42.3q44, and a 7.6 Mb duplication of 7q36.1q36.3 detected by array comparative genomic hybridization. This unbalanced t(1;7) was found to be inherited from a balanced translocation from the mother. All the patients presented with hypotonia, microcephaly, developmental delay, seizures, abnormal corpus callosum and abnormal cerebellum
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726840/