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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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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