De Novo Pure Trisomy 20p: Report of a Novel Case of a Marker Chromosome and Literature Review
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Dear Editor, Trisomy 20p is a rare genetic disorder manifesting as intellectual disability, speech delay, specific facial features, and delayed motor milestones. Severity of the symptom depends on chromosome 20p duplication size; larger chromosomal duplications usually result in more serious symptoms [1]. Most previously reported cases involved partial trisomy 20p derived from a parental reciprocal translocation, chromosome inversion, or a small supernumerary marker chromosome (sSMC) [1-5]. However, only a few cases of pure trisomy 20p (involving whole short arm of chromosome 20) have been reported [1, 5-9].
Abstract
Dear Editor, Trisomy 20p is a rare genetic disorder manifesting as intellectual disability, speech delay, specific facial features, and delayed motor milestones. Severity of the symptom depends on chromosome 20p duplication size; larger chromosomal duplications usually result in more serious symptoms [1]. Most previously reported cases involved partial trisomy 20p derived from a parental reciprocal translocation, chromosome inversion, or a small supernumerary marker chromosome (sSMC) [1-5]. However, only a few cases of pure trisomy 20p (involving whole short arm of chromosome 20) have been reported [1, 5-9].
참고문헌 (10)
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- 강정은, "A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion", Annals of Laboratory Medicine, 32(1), pp.91~94 (2012), 대한진단검사의학회
- "Small supernumerary marker chromosomes"[URL]
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- Bartolini L, "De novo trisomy 20p characterized by array comparative genomic hybridization: report of a novel case and review of the literature", Gene, 524, pp.368~372 (2013)
- Izumi K, "Dissecting the phenotype of supernumerary marker chromosome 20 in a patient with syndromic pierre robin sequence: combinatorial effect of gene dosage and uniparental disomy", Am J Med Genet A, 167, pp.1289~1293 (2015)