Direct duplication of 8p21.3?p23.1: A cytogenetic anomaly associated with developmental delay without consistent clinical features
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference12 articles.
1. Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance.
2. Inversion duplication of the short arm of chromosome 8: Clinical data on seven patients and review of the literature
3. Partial trisomy and monosomy 8p due to inversion duplication
4. Familial partial trisomy 8p without dysmorphic features and only mild mental retardation
5. Duplication of chromosome region 8p23.1 ? p23.3: A benign variant?
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1. De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review;Frontiers in Pediatrics;2020-07-08
2. Is interstitial 8p23 microdeletion responsible of 46, XY gonadal dysgenesis? One case report from birth to puberty;Molecular Genetics & Genomic Medicine;2019-01-28
3. Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangements;Molecular Cytogenetics;2016-01-28
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. Identification of genomic loci contributing to agenesis of the corpus callosum;American Journal of Medical Genetics Part A;2010-08-03
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