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

• Published in: Annals of medical sciences Vol. 11; no. 1; pp. 7 - 12
• Main Authors: TOPALOĞLU, A. Kemal, HIRSCHHORM, Kurt, WILLNER, Judith P, LEVY, Brynn
• Format: Journal Article
• Language: English
• Published: Çukurova Üniversitesi 2002
• Subjects: Araştırma teknikleri; Biochemical phenomena, metabolism and nutrition; Biyokimyasal olaylar, metabolizma ve beslenme; Case report; Epilepsi; Epilepsy; Erkek; Genetic processes; Genetik oluşumlar; İn situ hibridizasyon, floresan; In Situ Hybridization, Fluorescence; Infant; Investigative techniques; Male; Nervous system diseases; Nucleic Acid Hybridization; Nükleik asit hibridizasyonu; Olgu sunumu; Sinir sistemi hastalıkları; Süt çocuğu; X Chromosome; X kromozomu
• ISSN: 1300-0683

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.