De Novo Pure Trisomy 20p: Report of a Novel Case of a Marker Chromosome and Literature Review

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 symptom...

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Published inAnnals of laboratory medicine Vol. 40; no. 3; pp. 277 - 280
Main Authors Choi, Jungim, Yoon, Soo-Young, Park, Borae G., Eun, Baik-Lin, Kim, Myungshin, Kwon, Jung Ah
Format Journal Article
LanguageEnglish
Published Korea (South) The Korean Society for Laboratory Medicine 01.05.2020
대한진단검사의학회
Subjects
Child, Preschool
Chromosomes, Human, Pair 20 - genetics
Comparative Genomic Hybridization
Developmental Disabilities - diagnosis
Developmental Disabilities - genetics
Female
Genetic Markers
Humans
Karyotype
Letter to the Editor
Trisomy - genetics
병리학
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ISSN2234-3806
2234-3814
2234-3814
DOI10.3343/alm.2020.40.3.277

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Summary: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]. KCI Citation Count: 1
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
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ObjectType-Report-1
ObjectType-Article-3
ISSN:2234-3806
2234-3814
2234-3814
DOI:10.3343/alm.2020.40.3.277