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

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...

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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
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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.
AbstractList	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.
Author	HIRSCHHORM, Kurt LEVY, Brynn WILLNER, Judith P TOPALOĞLU, A. Kemal
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SubjectTerms	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
Title	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
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