Inherited duplication of Xq27.1-qter detected by comparative genomic hybridization in a male with seizure disorder: Report of a patient and review of the literature

Abstract

Purpose: Males with Xq partial disomies provide information on the phenotypic consequences of duplicated genetic material on the long arm of the X chromosome, since they cannot inactivate the duplicated portion of the X chromosome. We present the clinical findings of an infant male with an inherited duplication on the long arm of the X chromosome. Methods: The additional chromosomal material on Xq in the proband and mother was defined by comparative genomic hybridization (CGH) and confirmed by fluorescence in situ hybridization (FISH). Results: CGH identified the additional material to be form Xq27.16qter. The proband had a seizure disorder in addition to the typical Xq duplication phenotype. Review of the literature reveals that seizure disorder is common among males with distal Xq disomies. Conclusion: In this report we discuss the possible association of seizure disorder with distal Xq duplications including the Bilateral Periventricular Nodular Heterotopia (BPNH) gene, which is located at Xq28.