Articles with "duplication deletion" as a keyword



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Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity.

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Published in 2017 at "European journal of medical genetics"

DOI: 10.1016/j.ejmg.2017.06.003

Abstract: Using SNP array and FISH analysis, a patient with moderate intellectual disability and obesity was found to harbour an atypical 1.6 Mb inverted duplication on 8p23.1, directly flanked by a distally located interstitial deletion of 2.3 Mb… read more here.

Keywords: duplication; intellectual disability; disability obesity; duplication deletion ... See more keywords
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Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum

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Published in 2021 at "Clinical Genetics"

DOI: 10.1111/cge.14096

Abstract: Inverted duplication deletion 8p [invdupdel(8p)] is a complex and rare chromosomal rearrangement that combines a distal deletion and an inverted interstitial duplication of the short arm of chromosome 8. Carrier patients usually have developmental delay… read more here.

Keywords: duplication deletion; duplication; genotype phenotype; inverted duplication ... See more keywords