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18q partial monosomy syndrome

MedGen UID:
539282
•Concept ID:
C0265472
•
Disease or Syndrome
Synonym: Partial deletion of the long arm of chromosome 18
SNOMED CT: 18q partial monosomy syndrome (4242009); 18q minus syndrome (4242009); Long arm 18 deletion syndrome (4242009)
 
Orphanet: ORPHA262146

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV18q partial monosomy syndrome

Professional guidelines

PubMed

Prenatal diagnosis and molecular cytogenetic characterization of partial dup(18q)/del(18p) due to a paternal pericentric inversion 18 in a fetus with multiple anomalies.
Lee MJ, Park SH, Shim SH, Moon MJ, Cha DH
Taiwan J Obstet Gynecol 2019 May;58(3):318-323. doi: 10.1016/j.tjog.2019.03.005. PMID: 31122516
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.
Marangi G, Ricciardi S, Orteschi D, Lattante S, Murdolo M, Dallapiccola B, Biscione C, Lecce R, Chiurazzi P, Romano C, Greco D, Pettinato R, Sorge G, Pantaleoni C, Alfei E, Toldo I, Magnani C, Bonanni P, Martinez F, Serra G, Battaglia D, Lettori D, Vasco G, Baroncini A, Daolio C, Zollino M
Am J Med Genet A 2011 Jul;155A(7):1536-45. Epub 2011 Jun 10 doi: 10.1002/ajmg.a.34070. PMID: 21671391
Cytogenetic genotype-phenotype studies: improving genotyping, phenotyping and data storage.
Feenstra I, Brunner HG, van Ravenswaaij CM
Cytogenet Genome Res 2006;115(3-4):231-9. doi: 10.1159/000095919. PMID: 17124405

Recent clinical studies

Etiology

Epilepsy and chromosome 18 abnormalities: A review.
Verrotti A, Carelli A, di Genova L, Striano P
Seizure 2015 Nov;32:78-83. Epub 2015 Sep 28 doi: 10.1016/j.seizure.2015.09.013. PMID: 26552569
Frequent chromatin rearrangements in myelodysplastic syndromes--what stands behind?
Pagáčová E, Falk M, Falková I, Lukášová E, Michalová K, Oltová A, Raška I, Kozubek S
Folia Biol (Praha) 2014;60 Suppl 1:1-7. PMID: 25369334
An 18q- syndrome breakpoint resides between the duplicated serpins SCCA1 and SCCA2 and arises via a cryptic rearrangement with satellite III DNA.
Katz SG, Schneider SS, Bartuski A, Trask BJ, Massa H, Overhauser J, Lalande M, Lansdorp PM, Silverman GA
Hum Mol Genet 1999 Jan;8(1):87-92. doi: 10.1093/hmg/8.1.87. PMID: 9887335
Molecular analysis of the 18q- syndrome--and correlation with phenotype.
Kline AD, White ME, Wapner R, Rojas K, Biesecker LG, Kamholz J, Zackai EH, Muenke M, Scott CI Jr, Overhauser J
Am J Hum Genet 1993 May;52(5):895-906. PMID: 8488839Free PMC Article
Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion, inv(18)(p11.2q21.3).
Asano T, Ikeuchi T, Shinohara T, Enokido H, Hashimoto K
Jinrui Idengaku Zasshi 1991 Sep;36(3):257-65. doi: 10.1007/BF01910544. PMID: 1753439

Diagnosis

Prenatal diagnosis and molecular cytogenetic characterization of partial dup(18q)/del(18p) due to a paternal pericentric inversion 18 in a fetus with multiple anomalies.
Lee MJ, Park SH, Shim SH, Moon MJ, Cha DH
Taiwan J Obstet Gynecol 2019 May;58(3):318-323. doi: 10.1016/j.tjog.2019.03.005. PMID: 31122516
Epilepsy and chromosome 18 abnormalities: A review.
Verrotti A, Carelli A, di Genova L, Striano P
Seizure 2015 Nov;32:78-83. Epub 2015 Sep 28 doi: 10.1016/j.seizure.2015.09.013. PMID: 26552569
Consequences of chromsome18q deletions.
Cody JD, Sebold C, Heard P, Carter E, Soileau B, Hasi-Zogaj M, Hill A, Rupert D, Perry B, O'Donnell L, Gelfond J, Lancaster J, Fox PT, Hale DE
Am J Med Genet C Semin Med Genet 2015 Sep;169(3):265-80. Epub 2015 Aug 3 doi: 10.1002/ajmg.c.31446. PMID: 26235940
Chromosome 18q-syndrome and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision.
Brandigi E, Molinaro F, Bulotta AL, Angotti R, Pavone M, Messina M
Ital J Pediatr 2013 Jan 23;39:6. doi: 10.1186/1824-7288-39-6. PMID: 23343423Free PMC Article
Cytogenetic genotype-phenotype studies: improving genotyping, phenotyping and data storage.
Feenstra I, Brunner HG, van Ravenswaaij CM
Cytogenet Genome Res 2006;115(3-4):231-9. doi: 10.1159/000095919. PMID: 17124405

Therapy

Clinical Characteristics and Long-Term Recombinant Human Growth Hormone Treatment of 18q- Syndrome: A Case Report and Literature Review.
Liu S, Chen M, Yang H, Chen S, Wang L, Duan L, Zhu H, Pan H
Front Endocrinol (Lausanne) 2021;12:776835. Epub 2021 Dec 9 doi: 10.3389/fendo.2021.776835. PMID: 34956087Free PMC Article
Subcutaneous immunoglobulin replacement therapy in a patient with 18q deletion syndrome, primary immune deficiency, and type 1 diabetes.
Hogendorf A, Szadkowska A, Michalak A, Surman M, Trojan-Borczynska K, Młynarski W, Janczar S
Int J Immunopathol Pharmacol 2021 Jan-Dec;35:20587384211039400. doi: 10.1177/20587384211039400. PMID: 34514903Free PMC Article
Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects.
Rojnueangnit K, Charalsawadi C, Thammachote W, Pradabmuksiri A, Tim-Aroon T, Novelli A, Loddo S, Briuglia S, Concetta CM, Wattanasirichaigoon D, Jinawath N
Mol Genet Genomic Med 2019 Sep;7(9):e896. Epub 2019 Aug 7 doi: 10.1002/mgg3.896. PMID: 31390163Free PMC Article
Frequent chromatin rearrangements in myelodysplastic syndromes--what stands behind?
Pagáčová E, Falk M, Falková I, Lukášová E, Michalová K, Oltová A, Raška I, Kozubek S
Folia Biol (Praha) 2014;60 Suppl 1:1-7. PMID: 25369334
The 18q- syndrome: analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2.
Silverman GA, Schneider SS, Massa HF, Flint A, Lalande M, Leonard JC, Overhauser J, van den Engh G, Trask BJ
Am J Hum Genet 1995 Apr;56(4):926-37. PMID: 7717403Free PMC Article

Prognosis

Immune Dysregulation in Patients With Chromosome 18q Deletions-Searching for Putative Loci for Autoimmunity and Immunodeficiency.
Hogendorf A, Zieliński M, Constantinou M, Śmigiel R, Wierzba J, Wyka K, Wędrychowicz A, Jakubiuk-Tomaszuk A, Budzynska E, Piotrowicz M, Lipska-Ziętkiewicz BS, Kaczorowska E, Cieślikowska A, Kutkowska-Kaźmierczak A, Fijak-Moskal J, Kugaudo M, Kosińska-Urbańska M, Szadkowska A, Borowiec M, Niedźwiecki M, Trzonkowski P, Młynarski W
Front Immunol 2021;12:742834. Epub 2021 Nov 17 doi: 10.3389/fimmu.2021.742834. PMID: 34867966Free PMC Article
Subcutaneous immunoglobulin replacement therapy in a patient with 18q deletion syndrome, primary immune deficiency, and type 1 diabetes.
Hogendorf A, Szadkowska A, Michalak A, Surman M, Trojan-Borczynska K, Młynarski W, Janczar S
Int J Immunopathol Pharmacol 2021 Jan-Dec;35:20587384211039400. doi: 10.1177/20587384211039400. PMID: 34514903Free PMC Article
Epilepsy and chromosome 18 abnormalities: A review.
Verrotti A, Carelli A, di Genova L, Striano P
Seizure 2015 Nov;32:78-83. Epub 2015 Sep 28 doi: 10.1016/j.seizure.2015.09.013. PMID: 26552569
Consequences of chromsome18q deletions.
Cody JD, Sebold C, Heard P, Carter E, Soileau B, Hasi-Zogaj M, Hill A, Rupert D, Perry B, O'Donnell L, Gelfond J, Lancaster J, Fox PT, Hale DE
Am J Med Genet C Semin Med Genet 2015 Sep;169(3):265-80. Epub 2015 Aug 3 doi: 10.1002/ajmg.c.31446. PMID: 26235940
Inflammatory and noninflammatory arthropathy in patients with 18q deletion syndrome.
Safi KH, Fathalla BM
J Clin Rheumatol 2012 Jan;18(1):36-8. doi: 10.1097/RHU.0b013e31823e6df7. PMID: 22157270

Clinical prediction guides

Cerebral white matter abnormalities associated with chromosome 18q duplication.
Huang J, Saint-Martin C, Tchakarska G, Lavoie J, Myers KA
Brain Dev 2022 Sep;44(8):562-566. Epub 2022 Apr 22 doi: 10.1016/j.braindev.2022.04.004. PMID: 35469635
Clinical Characteristics and Long-Term Recombinant Human Growth Hormone Treatment of 18q- Syndrome: A Case Report and Literature Review.
Liu S, Chen M, Yang H, Chen S, Wang L, Duan L, Zhu H, Pan H
Front Endocrinol (Lausanne) 2021;12:776835. Epub 2021 Dec 9 doi: 10.3389/fendo.2021.776835. PMID: 34956087Free PMC Article
Immune Dysregulation in Patients With Chromosome 18q Deletions-Searching for Putative Loci for Autoimmunity and Immunodeficiency.
Hogendorf A, Zieliński M, Constantinou M, Śmigiel R, Wierzba J, Wyka K, Wędrychowicz A, Jakubiuk-Tomaszuk A, Budzynska E, Piotrowicz M, Lipska-Ziętkiewicz BS, Kaczorowska E, Cieślikowska A, Kutkowska-Kaźmierczak A, Fijak-Moskal J, Kugaudo M, Kosińska-Urbańska M, Szadkowska A, Borowiec M, Niedźwiecki M, Trzonkowski P, Młynarski W
Front Immunol 2021;12:742834. Epub 2021 Nov 17 doi: 10.3389/fimmu.2021.742834. PMID: 34867966Free PMC Article
Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects.
Rojnueangnit K, Charalsawadi C, Thammachote W, Pradabmuksiri A, Tim-Aroon T, Novelli A, Loddo S, Briuglia S, Concetta CM, Wattanasirichaigoon D, Jinawath N
Mol Genet Genomic Med 2019 Sep;7(9):e896. Epub 2019 Aug 7 doi: 10.1002/mgg3.896. PMID: 31390163Free PMC Article
Neuropsychiatry of 18q- syndrome.
Mahr RN, Moberg PJ, Overhauser J, Strathdee G, Kamholz J, Loevner LA, Campbell H, Zackai EH, Reber ME, Mozley DP, Brown L, Turetsky BI, Shapiro RM
Am J Med Genet 1996 Apr 9;67(2):172-8. doi: 10.1002/(SICI)1096-8628(19960409)67:2<172::AID-AJMG7>3.0.CO;2-U. PMID: 8723044

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