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Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development

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Dear Editor, Few cases involving deletions and duplications of the short arm of chromosome 20 have been reported; these patients present various phenotypes, including developmental delays and dysmorphic features [1-10]. In the majority of cases, 20p deletions and duplications are accompanied by defects in other chromosomes [1-3]. Here, we report a patient with a complex partial deletion and duplication involving 20p only, identified by chromosomal microarray (CMA)

Abstract

Dear Editor, Few cases involving deletions and duplications of the short arm of chromosome 20 have been reported; these patients present various phenotypes, including developmental delays and dysmorphic features [1-10]. In the majority of cases, 20p deletions and duplications are accompanied by defects in other chromosomes [1-3]. Here, we report a patient with a complex partial deletion and duplication involving 20p only, identified by chromosomal microarray (CMA)

참고문헌 (10)

  1. Freitas EL, "Maternally inherited partial monosomy 9p (pter --> p24.1) and partial trisomy 20p (pter --> p12.1) characterized by microarray comparative genomic hybridization", Am J Med Genet Part A, 155A, pp.2754~2761 (2011)
  2. Meloni Vde F, "Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype", Gene, 496, pp.59~62 (2012)[DOI]
  3. Oegema R, "Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p", Eur J Med Genet, 55, pp.265~268 (2012)[DOI]
  4. Leclercq S, "Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U-type exchange model", Am J Med Genet Part A, 149A, pp.437~445 (2009)[DOI]
  5. Trachoo O, "Chromosome 20p inverted duplication deletion identified in a Thai female adult with mental retardation, obesity, chronic kidney disease and characteristic facial features", Eur Med Genet, 56, pp.319~324 (2013)[DOI]
  6. 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
  7. Martin MM, "Mosaic deletion of 20pter due to rescue by somatic recombination", Am J Med Genet Part A, 170A, pp.243~248 (2016)
  8. Moutton S, "Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?", Eur J Med Genet, 55, pp.151~155 (2012)[DOI]
  9. Zhang F, "Interstitial deletion of the short arm of chromosome 20 in arteriohepatic dysplasia (Alagille syndrome)", J Pediatr, 116, pp.73~77 (1990)[DOI]
  10. An Y, "SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay", Am J Med Genet Part B Neuropsychiatr Genet, 162B, pp.832~840 (2013)

관련 논문AI추천

De Novo Pure Trisomy 20p: Report of a Novel Case of a Marker Chromosome and Literature Review권정아, 박금보래, Baik-Lin Eun, Jungim Choi, Myungshin Kim, Soo-Young Yoon대한진단검사의학회 · Annals of Laboratory Medicine2020 · 제40권 제3호A Patient With Delayed Development Resulting From De Novo Duplication of 7q36.1-q36.3 and Deletion of 9p24.3김명신, 오자영, 장대현, 장우리, Asayeon Choi대한재활의학회 · Annals of Rehabilitation Medicine2017 · 제41권 제5호Two Cases of Partial Trisomy 4p and Partial Trisomy 14q김여향, 김흥식, 류남희, 하정숙대한진단검사의학회 · Annals of Laboratory Medicine2013 · 제33권 제1호Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability황희, 김기중, 김수연, 우미정, 이진숙, 임병찬, 전종관, 채종희, 최영민, 최진선대한진단검사의학회 · Annals of Laboratory Medicine2018 · 제38권 제5호A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion강정은, 박미영, 이종윤, 이형두, 전종근, 황상현대한진단검사의학회 · Annals of Laboratory Medicine2012 · 제32권 제1호14q12q13.3 Deletion Diagnosed Using Chromosomal Microarray Analysis in an Infant Showing Seizures, Hypoplasia of the Corpus Callosum, and Developmental Delay천은정, Hyon J. Kim, Jae Hyuk Kwon, Jae Woo Lim, Jung Min Yoon, Kyung Ok Ko, Young Hwa Song대한신생아학회 · Neonatal medicine2020 · 제27권 제4호

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