Distal chromosome 18q deletion syndrome

MedGen UID:: 1382173
•Concept ID:: C4329736
•: Disease or Syndrome

Synonyms:	distal 18q deletion; Distal 18q Deletion Syndrome; Distal 18q deletion syndrome; distal 18q deletion syndrome; distal 18q-; distal chromosome 18q deletion syndrome; Distal monosomy 18q
SNOMED CT:	Distal 18q deletion syndrome (765171002); Distal monosomy 18q (765171002); Distal chromosome 18q deletion syndrome (765171002)

Monarch Initiative:	MONDO:0700119

Definition

A deletion of the long (q) arm of chromosome 18 near one end of the chromosome. Manifestations of this disorder are varied and can commonly include short stature, hypotonia, hearing loss, clubfoot or rocker-bottom feet, eye movement disorders and other vision problems, cleft palate, hypothyroidism, congenital heart defects, kidney problems, genital and skin abnormalities. Most cases are the result of a de novo deletion and are not inherited. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDistal chromosome 18q deletion syndrome

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Syndromic disease
      - Distal chromosome 18q deletion syndrome

Recent clinical studies

Etiology

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: 34867966 Free PMC Article

Mood disorders in individuals with distal 18q deletions.

Daviss WB, O'Donnell L, Soileau BT, Heard P, Carter E, Pliszka SR, Gelfond JA, Hale DE, Cody JD
Am J Med Genet B Neuropsychiatr Genet 2013 Dec;162B(8):879-88. Epub 2013 Sep 4 doi: 10.1002/ajmg.b.32197. PMID: 24006251

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Diagnosis

Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion.

Bonaglia MC, Fichera M, Marelli S, Romaniello R, Zuffardi O
Eur J Med Genet 2022 Nov;65(11):104596. Epub 2022 Sep 5 doi: 10.1016/j.ejmg.2022.104596. PMID: 36064004

Detection of de novo del(18)(q22.2) and a familial of 15q13.2-q13.3 microduplication in a fetus with congenital heart defects.

Chen CP, Chen CY, Chern SR, Wu PS, Chen SW, Wu FT, Chen LF, Wang W
Taiwan J Obstet Gynecol 2019 Sep;58(5):704-708. doi: 10.1016/j.tjog.2019.07.022. PMID: 31542097

Patchy white matter hyperintensity in ring chromosome 18 syndrome.

Anzai M, Arai-Ichinoi N, Takezawa Y, Endo W, Inui T, Sato R, Kikuchi A, Uematsu M, Kure S, Haginoya K
Pediatr Int 2016 Sep;58(9):919-22. Epub 2016 Aug 31 doi: 10.1111/ped.13043. PMID: 27577543

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Therapy

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: 31390163 Free PMC Article

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