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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…
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Keywords:
duplication;
intellectual disability;
disability obesity;
duplication deletion ... See more keywords
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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…
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Keywords:
duplication deletion;
duplication;
genotype phenotype;
inverted duplication ... See more keywords