Prenatal diagnosis of inverted duplication deletion 8p syndrome mimicking trisomy 18
Author:
Affiliation:
1. Department of Obstetrics; Gynecology and Reproductive Sciences; University of Maryland; Baltimore Maryland
2. College of Arts and Sciences; University of Miami; Coral Gables Florida
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference13 articles.
1. Congenital polyvalvular disease in trisomy 18: Echocardiographic diagnosis;Balderston;Pediatr Cardiol,1990
2. Unusual 8p inverted duplication deletion with telomere capture from 8q;Buysse;Eur J Med Genet,2009
3. Genotype-phenotype association studies of chromosome 8p inverted duplication deletion syndrome;Fisch;Behav Genet,2011
4. Analysis of invdupdel 8(p) rearrangement: Clinical, cytogenetic, and molecular characterization;García-Santiago;Am J Med Genet Part A,2015
5. Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements;Giglio;Am J Hum Genet,2001
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1. Prenatal diagnosis of 18p deletion and 8p trisomy syndrome: literature review and report of a novel case;BMC Women's Health;2024-04-15
2. Prenatal Diagnosis of 18p Deletion and 8p Trisomy Syndrome: Case Report and Review of Literature;2023-11-01
3. 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
4. Prenatal Diagnosis of 8p23 Deletion Syndrome by Single Nucleotide Polymorphism Microarray;Journal of Fetal Medicine;2021-10-22
5. Structural abnormalities of chromosome 8 and fetoplacental discrepancy: A second case report and review of fetal phenotype of 8p inverted duplication deletion syndrome;European Journal of Medical Genetics;2021-01
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