Published Articles
Analysis of Invdupdel(8p) Rearrangement: Clinical, Cytogenetic and Molecular Characterization
Abstract Inverted duplication 8p associated with deletion of the short arms of chromosome 8 (invdupdel[8p])is a relatively uncommon complex chromosomal…
Read MoreInverted Duplication Deletion Of 8p: Characterization By Standard Cytogenetic and SNP Array Analyses
Abstract Inverted 8p duplication deletions are recurrent chromosomal rearrangements that most often arise through non-allelic homologous recombination (NAHR) during maternal…
Read MoreGenotype–Phenotype Association Studies of Chromosome 8p Inverted Duplication Deletion Syndrome
Abstract Individuals diagnosed with chromosome 8p inverted duplication deletion (invdupdel(8p)) manifest a wide range of clinical features and cognitive impairment.…
Read MoreGenomic profile of copy number variants on the short arm of human chromosome 8
Abstract We evaluated 966 consecutive pediatric patients with various developmental disorders by high-resolution microarray-based comparative genomic hybridization and found 10…
Read MoreInverted duplications deletions: underdiagnosed rearrangements??
Abstract Molecular techniques led to the discovery that several chromosome rearrangements interpreted as terminal duplications were in fact inverted duplications…
Read MoreNews Articles
Weatherford Democrat – Weatherford family hopes to travel to NY for rare disorder conference
Article By Madelyn Edwards news@weatherforddemocrat.com When doctors diagnosed Shelby Prewett with chromosome 8 disorder at age 4, the information they…
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Fox 5 NY – Brave girl inspires research on rare chromosomal disorder | The Big Idea
Article By Teresa Priolo, FOX 5 NY Karina Shah, 6, has a song in her heart and a beat in…
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New Zealand Herald – Kathryn Hazeldine: The life of a 5-year-old with chromosome 8p condition unable to yet walk or talk
Article by: Leah Tebbutt It’s the long curly hair you notice first as it falls around Kathryn Hazeldine’s face. It’s…
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Bravo TV – Denise Richards Breaks Down While Explaining the Rare Disorder That Affects Her Daughter, Eloise
Article By Tamara Palmer Denise Richards adopted her 8-year-old daughter, Eloise, in 2011, joining daughters Sam and Lola (who she had…
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Fox 5 NY – Family of girl with rare chromosomal disorder creates nonprofit to help research condition
NEW YORK (FOX 5 NY) – Karina Shah, 6, has spent her life living with a Chromosome 8p abnormality, a rare…
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Pharmafile – Living with a Rare Chromosome Disorder
Rebecca Pender’s daughter Hannah lives with the ultra-rare condition Inv Dup Del 8p, a genetic arrangement that affects just 80…
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