Neurological expression of an inherited translocation of chromosomal 1 and 7.

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.

DOI: 10.17712/nsj.2017.1.20160436

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Cite this paper

@article{AlMajhad2017NeurologicalEO, title={Neurological expression of an inherited translocation of chromosomal 1 and 7.}, author={Nabil A AlMajhad and Amal M Alhashem and Inesse Ben Abdallah Bouhjar and Brahim Tabarki}, journal={Neurosciences}, year={2017}, volume={22 1}, pages={62-64} }