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Journals / Annals of Medical Sciences / 2002 / Cilt: 11 - Sayı: 1

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

Brynn LEVY
Kurt HIRSCHHORM
Judith P. WILLNER
A. Kemal TOPALOĞLU
Pages
7–12
Publication Date
2022-10-10
DOI
—
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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.

📌 3 Key Takeaways

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Objective & Hypothesis: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.
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Key Findings & Data:Results: CGH identified the additional material to be form Xq27.16qter.
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Conclusion & Impact: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.
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

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.

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Cite This Article

LEVY, B., HIRSCHHORM, K., WILLNER, J. P., TOPALOĞLU, A. K. (2022). 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. Annals of Medical Sciences, Cilt: 11 - Sayı: 1, 7–12. https://ajindex.com/articles/447436

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