Abstract
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.
Article Type
Case Report
First Page
62
Last Page
64
Recommended Citation
AlMajhad, Nabil A.; AlHashem, Amal M.; Bouhjar, Inesse A.; and Tabarki, Brahim M.
(2017)
"Neurological expression of an inherited translocation of chromosomal 1 and 7,"
Neurosciences: Vol. 22:
Iss.
1, Article 11.
DOI: https://doi.org/10.17712/nsj.2017.1.20160436