Inverted Duplication/Deletion of Chromosome 8p: Mild Clinical Phenotype
Summary Case report (n = 1) of 18 month old female with invdupdel 8p. Mild clinical phenotype. READ FULL TEXT…
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The research articles below are from medical journals that have mentioned Chromosome 8. If you have any articles to share with us that is relevant to Project 8p’s mission, please contact us with the article. If it adheres to these guidelines, we will add it below to our growing research page.
Published Articles
Clinical and Cytogenetic Findings in Seven Cases of Inverted Duplication of 8p With Evidence of a Telomeric Deletion Using Fluorescence in Situ Hybridization
Abstract We report on the clinical and cytogenetic findings in 7 cases of inverted duplication of region 8p11.2p23. The phenotype…
Read MoreChromosome Disorder Outreach Results
Summary Informational summary of chromosome 8 (8p and 8q) disorders — deletions and trisomy. Overview of clinical characteristics. Summary of…
Read MorePartial trisomy and monosorny 8p due to inversion duplication
Abstract Fluorescent in situ hybridization with probes specific for a chromosomal subregion and chromosome-specific libraries (chromosome painting) are important new…
Read MoreProtelomeric Sequences Are Deleted in Cases of Short Arm Inverted Duplication of Chromosome 8
Abstract We present a patient with a de novo inverted duplication of the short arm of chromosome 8. Molecular analysis…
Read MoreD8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p)
Abstract Ten patients with inverted duplication of 8p (inv dup 8p) were studied with cytogenetic, biochemical and molecular techniques. The…
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