Dextrocardia, atrial septal defect, severe developmental delay, facial anomalies, and supernumerary ribs in a child with a complex unbalanced 8;22 translocation including partial 8p duplication
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference40 articles.
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4. Unbalanced translocation 8;Y (45,X,dic(Y;8)(q11.23;p23.1)): Case report and review of terminal 8p deletions;Bosse;Ann Genet,2004
5. Fluorescent in situ hybridization (FISH) for DNA probes in the interphase and metaphase stages of the cell cycle;Cannizzaro;Methods Mol Biol,1997
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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. A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1;Pediatric Research;2023-12-22
3. Novel insertion mutation (Arg1822_Glu1823dup) in MYH6 coiled-coil domain causing familial atrial septal defect;European Journal of Medical Genetics;2021-11
4. Identification of candidate genes for congenital heart defects on proximal chromosome 8p;Scientific Reports;2016-11-03
5. Lumbar ribs: a comprehensive review;Child's Nervous System;2015-09-09
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