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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Bibliographic Details
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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