Trisomy of the short arm of chromosome 5 due to a de novo inversion and duplication (5)(p15.3 p13.3)
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference20 articles.
1. Detailed characterization of 12 supernumerary ring chromosomes using micro‐FISH and search for uniparental disomy
2. Proximal 5p trisomy resulting from a marker chromosome implicates band 5p13 in 5p trisomy syndrome
3. 'Complete 5p' trisomy: 1 case and 19 translocation carriers in 6 generations.
4. A clinical syndrome associated with dup(5p)
5. A case report of a de novo tandem duplication (5p) (p14 → pter)
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1. 5p13 microduplication in a malformed fetus and his unaffected father;American Journal of Medical Genetics Part A;2022-11-02
2. Prenatal Diagnosis of Talipes Equinovarus by Ultrasound and Chromosomal Microarray Analysis: A Chinese Single-Center Retrospective Study;Genes;2022-09-01
3. A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay;Molecular Genetics & Genomic Medicine;2022-02-21
4. Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndrome;Clinics;2022-01
5. A clinical case of inverted duplication with terminal deletion of the short arm of chromosome 5;Almanac of Clinical Medicine;2020-10-22
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