Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference22 articles.
1. Partial monosomy 8p with minimal dysmorphic signs.
2. Inverted tandem duplication generates a duplication deficiency of chromosome 8p
3. Partial 8p trisomy due to interstitial duplication: karyotype: 46, XX, inv dup(8) (p21.1→p22)
4. Inv dup (8) (p21.1 → 22.1): further case report and a new hypothesis on the origin of the chromosome abnormality
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1. Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum;Clinical Genetics;2021-12-15
2. 46,XY,r(8)/45,XY,−8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study;Genes;2020-12-09
3. An Interesting and Unique Case of 8p23.3p23.1 Deletion and 8p23.1p11.1 Interstitial Duplication Syndrome;Journal of Pediatric Genetics;2018-04-04
4. Mild phenotype in a patient with mosaic del(8p)/inv dup del(8p);American Journal of Medical Genetics Part A;2010-09-09
5. Genomic profile of copy number variants on the short arm of human chromosome 8;European Journal of Human Genetics;2010-05-12
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