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Chromosome 14 trisomy

MedGen UID:
162781
•Concept ID:
C0795851
•
Disease or Syndrome
Synonym: Trisomy 14

Definition

A chromosomal abnormality consisting of the presence of a third copy of chromosome 14 in somatic cells. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChromosome 14 trisomy

Recent clinical studies

Etiology

A case report of the neurocognitive and behavioral phenotype of mosaic trisomy 14.
Godfrey M, Udhnani M, Lee NR
Neurocase 2018 Oct-Dec;24(5-6):250-254. Epub 2019 Feb 4 doi: 10.1080/13554794.2019.1572196. PMID: 30714851
Sphincterplasty for Velopharyngeal Insufficiency in the Child Without a Cleft-Palate: Etiologies and Speech Outcomes.
Golinko MS, Mason K, Nett K, Riski JE, Williams JK
J Craniofac Surg 2015 Oct;26(7):2067-71. doi: 10.1097/SCS.0000000000001967. PMID: 26468787
Partial proximal trisomy 14: identification and molecular characterization in a girl with global developmental delay.
Dutta UR, Pidugu VK, Dalal A
Genet Couns 2013;24(2):207-16. PMID: 24032292
A new small supernumerary marker chromosome involving 14pter → q12 in a child with severe neurodevelopmental retardation: case report and literature review.
Qi M, Zhao Y, Wang Y, Li T
Gene 2013 Dec 1;531(2):457-61. Epub 2013 Sep 5 doi: 10.1016/j.gene.2013.08.084. PMID: 24013083
Trisomy 14 as a sole chromosome abnormality is associated with older age, a heterogenous group of myeloid neoplasms with dysplasia, and a wide spectrum of disease progression.
Cui W, Bueso-Ramos CE, Yin CC, Sun J, Chen S, Muddasani R, Lu G
J Biomed Biotechnol 2010;2010:365318. Epub 2011 Jan 20 doi: 10.1155/2010/365318. PMID: 21331167Free PMC Article

Diagnosis

High-level mosaic trisomy 14 at amniocentesis in a pregnancy associated with congenital heart defects and intrauterine growth restriction on fetal ultrasound.
Chen CP, Wu FT, Wang LK, Pan YT, Lee MS, Wang W
Taiwan J Obstet Gynecol 2023 Jul;62(4):594-596. doi: 10.1016/j.tjog.2023.05.007. PMID: 37407202
Partial trisomy 9p and 14q microduplication in a patient with growth retardation: a case report and review of the literature.
Fan J, Zhou J, Lin D, Guo Y, Li S, Zhang S, Liang L, Yan L
J Pediatr Endocrinol Metab 2020 Mar 26;33(3):431-436. doi: 10.1515/jpem-2019-0246. PMID: 32069233
A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism.
Ushijima K, Yatsuga S, Matsumoto T, Nakamura A, Fukami M, Kagami M
J Hum Genet 2018 Mar;63(3):377-381. Epub 2018 Jan 9 doi: 10.1038/s10038-017-0381-z. PMID: 29311684
Mosaic trisomy 14 at amniocentesis: prenatal diagnosis and literature review.
Chen CP, Wang KG, Ko TM, Chern SR, Su JW, Town DD, Wang W
Taiwan J Obstet Gynecol 2013 Sep;52(3):446-9. doi: 10.1016/j.tjog.2013.07.001. PMID: 24075393
A new small supernumerary marker chromosome involving 14pter → q12 in a child with severe neurodevelopmental retardation: case report and literature review.
Qi M, Zhao Y, Wang Y, Li T
Gene 2013 Dec 1;531(2):457-61. Epub 2013 Sep 5 doi: 10.1016/j.gene.2013.08.084. PMID: 24013083

Therapy

Trisomy 14 is a non-random karyotypic abnormality associated with myeloid malignancies.
Toze CL, Barnett MJ, Naiman SC, Horsman DE
Br J Haematol 1997 Jul;98(1):177-85. doi: 10.1046/j.1365-2141.1997.1863003.x. PMID: 9233582

Prognosis

Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior.
Shirley MD, Frelin L, López JS, Jedlicka A, Dziedzic A, Frank-Crawford MA, Silverman W, Hagopian L, Pevsner J
PLoS One 2016;11(3):e0149646. Epub 2016 Mar 2 doi: 10.1371/journal.pone.0149646. PMID: 26933844Free PMC Article
A 33-year-old male patient with paternal derived duplication of 14q11.2-14q22.1~22.3: clinical course, phenotypic and genotypic findings.
Wannenmacher B, Mitter D, Kießling F, Liehr T, Weise A, Siekmeyer M, Kiess W
J Pediatr Endocrinol Metab 2016 May 1;29(5):611-6. doi: 10.1515/jpem-2015-0375. PMID: 26824977
Sphincterplasty for Velopharyngeal Insufficiency in the Child Without a Cleft-Palate: Etiologies and Speech Outcomes.
Golinko MS, Mason K, Nett K, Riski JE, Williams JK
J Craniofac Surg 2015 Oct;26(7):2067-71. doi: 10.1097/SCS.0000000000001967. PMID: 26468787
Monochorionic twins discordant for mosaic trisomy 14.
He M, Pepperell JR, Gundogan F, De Paepe ME, Maggio L, Lu S, Kostadinov S, O'Brien B, Delamonte S, Pinar H, Tantravahi U
Am J Med Genet A 2014 May;164A(5):1227-33. Epub 2014 Jan 23 doi: 10.1002/ajmg.a.36407. PMID: 24458767
Trisomy 14 is a non-random karyotypic abnormality associated with myeloid malignancies.
Toze CL, Barnett MJ, Naiman SC, Horsman DE
Br J Haematol 1997 Jul;98(1):177-85. doi: 10.1046/j.1365-2141.1997.1863003.x. PMID: 9233582

Clinical prediction guides

A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism.
Ushijima K, Yatsuga S, Matsumoto T, Nakamura A, Fukami M, Kagami M
J Hum Genet 2018 Mar;63(3):377-381. Epub 2018 Jan 9 doi: 10.1038/s10038-017-0381-z. PMID: 29311684
Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior.
Shirley MD, Frelin L, López JS, Jedlicka A, Dziedzic A, Frank-Crawford MA, Silverman W, Hagopian L, Pevsner J
PLoS One 2016;11(3):e0149646. Epub 2016 Mar 2 doi: 10.1371/journal.pone.0149646. PMID: 26933844Free PMC Article
Sphincterplasty for Velopharyngeal Insufficiency in the Child Without a Cleft-Palate: Etiologies and Speech Outcomes.
Golinko MS, Mason K, Nett K, Riski JE, Williams JK
J Craniofac Surg 2015 Oct;26(7):2067-71. doi: 10.1097/SCS.0000000000001967. PMID: 26468787
Molecular Delineation of Partial Trisomy 14q and Partial Trisomy 12p in a Patient with Dysmorphic Features, Heart Defect and Developmental Delay.
Bose D, Krishnamurthy V, Venkatesh KS, Aiyaz M, Shetty M, Rao SN, Kutty AV
Cytogenet Genome Res 2015;145(1):14-8. Epub 2015 Apr 16 doi: 10.1159/000381294. PMID: 25896599

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