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18q syndrome

MedGen UID:
501173
•Concept ID:
C3495421
•
Disease or Syndrome
Synonym: Chromosome 18q 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
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

Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy.
Kumada T, Ito M, Miyajima T, Fujii T, Okuno T, Go T, Hattori H, Yoshioka M, Kobayashi K, Kanazawa O, Tohyama J, Akasaka N, Kamimura T, Sasagawa M, Amagane H, Mutoh K, Yamori Y, Kanda T, Yoshida N, Hirota H, Tanaka R, Hamada Y
Brain Dev 2005 Mar;27(2):127-34. doi: 10.1016/j.braindev.2003.12.010. PMID: 15668053
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
Dysmyelinating and demyelinating conditions in infancy.
Kolodny EH
Curr Opin Neurol Neurosurg 1993 Jun;6(3):379-86. PMID: 8507907
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
Clinical and chromosomal studies of the 18q- syndrome.
Wertelecki W, Gerald PS
J Pediatr 1971 Jan;78(1):44-52. doi: 10.1016/s0022-3476(71)80262-7. PMID: 5539084

Diagnosis

A patient with Pitt-Hopkins syndrome with concomitant common variable immunodeficiency.
Malik S, Jeanpierre L, Cianferoni A, Ruffner M, Sullivan KE
Am J Med Genet A 2024 Apr;194(4):e63490. Epub 2023 Dec 8 doi: 10.1002/ajmg.a.63490. PMID: 38066705
Del(18)(q12.2q21.1) syndrome: a case report and clinical review of the literature.
Imataka G, Ohwada Y, Shimura N, Yoshihara S, Arisaka O
Eur Rev Med Pharmacol Sci 2015 Sep;19(17):3241-5. PMID: 26400529
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
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
Dysmyelinating and demyelinating conditions in infancy.
Kolodny EH
Curr Opin Neurol Neurosurg 1993 Jun;6(3):379-86. PMID: 8507907

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
Growth hormone treatment in a patient with deletion of the long arm of chromosome 18: An 8-year observation.
Jackowski T, Petriczko E, Horodnicka-Jozwa A, Biczysko-Mokosa A, Szalecki M, Walczak M
Neuro Endocrinol Lett 2019 Nov;40(4):169-174. PMID: 32087092
Successful treatment with sumatriptan in a case with cyclic vomiting syndrome combined with 18q- syndrome.
Kakisaka Y, Wakusawa K, Sato I, Haginoya K, Uematsu M, Hirose M, Munakata M, Sato T, Tsuchiya S
J Child Neurol 2009 Dec;24(12):1561-3. Epub 2009 Sep 30 doi: 10.1177/0883073809334384. PMID: 19794103
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
Somatic cell hybrid deletion map of human chromosome 18.
Kline AD, Rojas K, Mewar R, Moshinsky D, Overhauser J
Genomics 1992 May;13(1):1-6. doi: 10.1016/0888-7543(92)90193-v. PMID: 1577474

Prognosis

Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy.
Kumada T, Ito M, Miyajima T, Fujii T, Okuno T, Go T, Hattori H, Yoshioka M, Kobayashi K, Kanazawa O, Tohyama J, Akasaka N, Kamimura T, Sasagawa M, Amagane H, Mutoh K, Yamori Y, Kanda T, Yoshida N, Hirota H, Tanaka R, Hamada Y
Brain Dev 2005 Mar;27(2):127-34. doi: 10.1016/j.braindev.2003.12.010. PMID: 15668053
White-matter disease in 18q deletion (18q-) syndrome: magnetic resonance spectroscopy indicates demyelination or increased myelin turnover rather than dysmyelination.
Häusler M, Anhuf D, Schüler H, Ramaekers VT, Thron A, Zerres K, Möller-Hartmann W
Neuroradiology 2005 Jan;47(1):83-6. Epub 2005 Jan 11 doi: 10.1007/s00234-004-1309-9. PMID: 15645149
Identification of cryptic rearrangements in patients with 18q- deletion syndrome.
Brkanac Z, Cody JD, Leach RJ, DuPont BR
Am J Hum Genet 1998 Jun;62(6):1500-6. doi: 10.1086/301854. PMID: 9585582Free PMC Article
Dysmyelinating and demyelinating conditions in infancy.
Kolodny EH
Curr Opin Neurol Neurosurg 1993 Jun;6(3):379-86. PMID: 8507907
Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18.
Vianna-Morgante AM, Nozaki MJ, Ortega CC, Coates V, Yamamura Y
J Med Genet 1976 Oct;13(5):366-70. doi: 10.1136/jmg.13.5.366. PMID: 1003448Free PMC Article

Clinical prediction guides

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
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
MR spectroscopy in 18q(-) syndrome suggesting other than hypomyelination.
Tada H, Takanashi J
Brain Dev 2014 Jan;36(1):57-60. Epub 2013 Jan 17 doi: 10.1016/j.braindev.2012.12.003. PMID: 23332863
Chromosome 18 replaced by two ring chromosomes of chromosome 18 origin.
Miller K, Pabst B, Ritter H, Nürnberg P, Siebert R, Schmidtke J, Arslan-Kirchner M
Hum Genet 2003 Apr;112(4):343-7. Epub 2003 Feb 6 doi: 10.1007/s00439-002-0885-1. PMID: 12574939
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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