U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Loss of Chromosome 18p

MedGen UID:
274702
•Concept ID:
C1517968
•
Cell or Molecular Dysfunction
Synonym: del(18p)

Definition

A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 18 (18p). [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLoss of Chromosome 18p

Professional guidelines

PubMed

Genome-wide screening for genetic changes in a matched pair of benign and prostate cancer cell lines using array CGH.
Brookman-Amissah N, Duchesnes C, Williamson MP, Wang Q, Ahmed A, Feneley MR, Mackay A, Freeman A, Fenwick K, Iravani M, Weber B, Ashworth A, Masters JR
Prostate Cancer Prostatic Dis 2005;8(4):335-43. doi: 10.1038/sj.pcan.4500826. PMID: 16130014
Colorectal cancer genomics: evidence for multiple genotypes which influence survival.
Rooney PH, Boonsong A, McKay JA, Marsh S, Stevenson DA, Murray GI, Curran S, Haites NE, Cassidy J, McLeod HL
Br J Cancer 2001 Nov 16;85(10):1492-8. doi: 10.1054/bjoc.2001.2095. PMID: 11720434Free PMC Article

Recent clinical studies

Etiology

Genomic analysis of spinal meningiomas: correlation with histopathological grade.
Driver J, Santagata S, Bi WL, Chi JH
J Neurosurg Spine 2023 Dec 1;39(6):729-733. Epub 2023 Aug 25 doi: 10.3171/2023.6.SPINE23425. PMID: 37728381
Molecular landscapes of longitudinal NF2/22q and non-NF2/22q meningiomas show different life histories.
Ng HK, Li KK, Chung NY, Chan JY, Poon MF, Wong QH, Kwan JS, Poon WS, Chen H, Chan DT, Shi ZF, Mao Y
Brain Pathol 2023 May;33(3):e13120. Epub 2022 Sep 27 doi: 10.1111/bpa.13120. PMID: 36167400Free PMC Article
Predictors of mosaic chromosome Y loss and associations with mortality in the UK Biobank.
Loftfield E, Zhou W, Graubard BI, Yeager M, Chanock SJ, Freedman ND, Machiela MJ
Sci Rep 2018 Aug 17;8(1):12316. doi: 10.1038/s41598-018-30759-1. PMID: 30120341Free PMC Article
Whole arm deletions of 18p: medical and developmental effects.
Sebold C, Soileau B, Heard P, Carter E, O'Donnell L, Hale DE, Cody JD
Am J Med Genet A 2015 Feb;167A(2):313-23. Epub 2015 Jan 14 doi: 10.1002/ajmg.a.36880. PMID: 25586871
Monosomy 18p.
Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672Free PMC Article

Diagnosis

Eye, Ocular Adnexa, and Facial Manifestations of Tetrasomy 18p.
Saadeh-Jackson S, King K, Al Saif H, Jackson-Cook C, Schleede J, Couser NL
J Pediatr Ophthalmol Strabismus 2021 Nov-Dec;58(6):e44-e48. Epub 2021 Nov 1 doi: 10.3928/01913913-20210826-01. PMID: 34851787
Whole arm deletions of 18p: medical and developmental effects.
Sebold C, Soileau B, Heard P, Carter E, O'Donnell L, Hale DE, Cody JD
Am J Med Genet A 2015 Feb;167A(2):313-23. Epub 2015 Jan 14 doi: 10.1002/ajmg.a.36880. PMID: 25586871
Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals.
Sebold C, Roeder E, Zimmerman M, Soileau B, Heard P, Carter E, Schatz M, White WA, Perry B, Reinker K, O'Donnell L, Lancaster J, Li J, Hasi M, Hill A, Pankratz L, Hale DE, Cody JD
Am J Med Genet A 2010 Sep;152A(9):2164-72. doi: 10.1002/ajmg.a.33597. PMID: 20803640
Cytogenetic, molecular genetic, and clinical characteristics of acute myeloid leukemia with a complex karyotype.
Mrózek K
Semin Oncol 2008 Aug;35(4):365-77. doi: 10.1053/j.seminoncol.2008.04.007. PMID: 18692687Free PMC Article
Monosomy 18p.
Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672Free PMC Article

Therapy

Optimal timing of fetal reduction from twins to singleton: earlier the better or later the better?
Zemet R, Haas J, Bart Y, Barzilay E, Shapira M, Zloto K, Hershenson R, Weisz B, Yinon Y, Mazaki-Tovi S, Lipitz S
Ultrasound Obstet Gynecol 2021 Jan;57(1):134-140. doi: 10.1002/uog.22119. PMID: 32529669
PTPN2 deficiency along with activation of nuclear Akt predict endocrine resistance in breast cancer.
Karlsson E, Veenstra C, Gårsjö J, Nordenskjöld B, Fornander T, Stål O
J Cancer Res Clin Oncol 2019 Mar;145(3):599-607. Epub 2018 Dec 4 doi: 10.1007/s00432-018-2810-6. PMID: 30515568Free PMC Article
Reduced rate of copy number aberrations in mucinous colorectal carcinoma.
Hugen N, Simmer F, Mekenkamp LJ, Koopman M, van den Broek E, de Wilt JH, Punt CJ, Ylstra B, Meijer GA, Nagtegaal ID
Oncotarget 2015 Sep 22;6(28):25715-25. doi: 10.18632/oncotarget.4706. PMID: 26329972Free PMC Article
Chromosomal imbalances: a hallmark of tumour relapse in primary cutaneous CD30+ T-cell lymphoma.
Prochazkova M, Chevret E, Beylot-Barry M, Sobotka J, Vergier B, Delaunay M, Turmo M, Ferrer J, Kuglik P, Merlio JP
J Pathol 2003 Nov;201(3):421-9. doi: 10.1002/path.1469. PMID: 14595754
Allele loss in Wilms tumors of chromosome arms 11q, 16q, and 22q correlate with clinicopathological parameters.
Klamt B, Schulze M, Thäte C, Mares J, Goetz P, Kodet R, Scheulen W, Weirich A, Graf N, Gessler M
Genes Chromosomes Cancer 1998 Aug;22(4):287-94. doi: 10.1002/(sici)1098-2264(199808)22:4<287::aid-gcc4>3.0.co;2-r. PMID: 9669666

Prognosis

Genomic analysis of spinal meningiomas: correlation with histopathological grade.
Driver J, Santagata S, Bi WL, Chi JH
J Neurosurg Spine 2023 Dec 1;39(6):729-733. Epub 2023 Aug 25 doi: 10.3171/2023.6.SPINE23425. PMID: 37728381
Molecular landscapes of longitudinal NF2/22q and non-NF2/22q meningiomas show different life histories.
Ng HK, Li KK, Chung NY, Chan JY, Poon MF, Wong QH, Kwan JS, Poon WS, Chen H, Chan DT, Shi ZF, Mao Y
Brain Pathol 2023 May;33(3):e13120. Epub 2022 Sep 27 doi: 10.1111/bpa.13120. PMID: 36167400Free PMC Article
Predictors of mosaic chromosome Y loss and associations with mortality in the UK Biobank.
Loftfield E, Zhou W, Graubard BI, Yeager M, Chanock SJ, Freedman ND, Machiela MJ
Sci Rep 2018 Aug 17;8(1):12316. doi: 10.1038/s41598-018-30759-1. PMID: 30120341Free PMC Article
Cytogenetic, molecular genetic, and clinical characteristics of acute myeloid leukemia with a complex karyotype.
Mrózek K
Semin Oncol 2008 Aug;35(4):365-77. doi: 10.1053/j.seminoncol.2008.04.007. PMID: 18692687Free PMC Article
Monosomy 18p.
Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672Free PMC Article

Clinical prediction guides

Genomic analysis of spinal meningiomas: correlation with histopathological grade.
Driver J, Santagata S, Bi WL, Chi JH
J Neurosurg Spine 2023 Dec 1;39(6):729-733. Epub 2023 Aug 25 doi: 10.3171/2023.6.SPINE23425. PMID: 37728381
Predictors of mosaic chromosome Y loss and associations with mortality in the UK Biobank.
Loftfield E, Zhou W, Graubard BI, Yeager M, Chanock SJ, Freedman ND, Machiela MJ
Sci Rep 2018 Aug 17;8(1):12316. doi: 10.1038/s41598-018-30759-1. PMID: 30120341Free PMC Article
Next Generation Sequencing of Sporadic Vestibular Schwannoma: Necessity of Biallelic NF2 Inactivation and Implications of Accessory Non-NF2 Variants.
Carlson ML, Smadbeck JB, Link MJ, Klee EW, Vasmatzis G, Schimmenti LA
Otol Neurotol 2018 Oct;39(9):e860-e871. doi: 10.1097/MAO.0000000000001932. PMID: 30106846
Whole arm deletions of 18p: medical and developmental effects.
Sebold C, Soileau B, Heard P, Carter E, O'Donnell L, Hale DE, Cody JD
Am J Med Genet A 2015 Feb;167A(2):313-23. Epub 2015 Jan 14 doi: 10.1002/ajmg.a.36880. PMID: 25586871
Allele loss in Wilms tumors of chromosome arms 11q, 16q, and 22q correlate with clinicopathological parameters.
Klamt B, Schulze M, Thäte C, Mares J, Goetz P, Kodet R, Scheulen W, Weirich A, Graf N, Gessler M
Genes Chromosomes Cancer 1998 Aug;22(4):287-94. doi: 10.1002/(sici)1098-2264(199808)22:4<287::aid-gcc4>3.0.co;2-r. PMID: 9669666

Recent systematic reviews

Eye, Ocular Adnexa, and Facial Manifestations of Tetrasomy 18p.
Saadeh-Jackson S, King K, Al Saif H, Jackson-Cook C, Schleede J, Couser NL
J Pediatr Ophthalmol Strabismus 2021 Nov-Dec;58(6):e44-e48. Epub 2021 Nov 1 doi: 10.3928/01913913-20210826-01. PMID: 34851787

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...