Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual face
Author:
Publisher
S. Karger AG
Subject
Genetics(clinical),Genetics,Molecular Biology
Reference46 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. Carnevale A, Hermandez M, Limon-Toledo I, Frias S, Castillo J, Del Castillo V: A clinical syndrome associated with dup(5p). Am J Med Genet 13:277-283 (1982).
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1. First case of two supernumerary markers derived from chromosome 5 and chromosome 8;Molecular Cytogenetics;2022-06-27
2. Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling;Molecular Cytogenetics;2018-03-27
3. A Small Supernumerary Marker Derived from the Pericentromeric Region of Chromosome 5: Case Report and Delineation of Partial Trisomy 5p Phenotype;Cytogenetic and Genome Research;2017
4. Posterior fossa infected dermoid with congenital heart disease: A novel hypothesis of an unusual association;Journal of Pediatric Neurosciences;2015
5. Partial Trisomy of the Pericentromeric Region of Chromosome 5 in a Girl with Binder Phenotype;Cytogenetic and Genome Research;2014
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