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Ring chromosome 22

MedGen UID:
539299
•Concept ID:
C0265492
•
Disease or Syndrome
Synonyms: R 22; Ring 22
SNOMED CT: Ring chromosome 22 syndrome (13555004)
 
Monarch Initiative: MONDO:0015438
Orphanet: ORPHA1446

Definition

An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioral characteristics. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRing chromosome 22

Professional guidelines

PubMed

Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22.
Koza SA, Tabet AC, Bonaglia MC, Andres S, Anderlid BM, Aten E, Stiefsohn D; European Phelan-McDermid syndrome consortium, Evans DG, van Ravenswaaij-Arts CMA, Kant SG
Eur J Med Genet 2023 Jul;66(7):104773. Epub 2023 Apr 28 doi: 10.1016/j.ejmg.2023.104773. PMID: 37120077

Recent clinical studies

Therapy

Ring chromosome 22 and mood disorders.
Sovner R, Stone A, Fox C
J Intellect Disabil Res 1996 Feb;40 ( Pt 1):82-6. doi: 10.1111/j.1365-2788.1996.tb00607.x. PMID: 8930062

Prognosis

Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.
Byers HM, Adam MP, LaCroix A, Leary SE, Cole B, Dobyns WB, Mefford HC
Am J Med Genet A 2017 Jan;173(1):245-249. Epub 2016 Oct 12 doi: 10.1002/ajmg.a.37993. PMID: 27734605Free PMC Article
Prenatal diagnosis of an unexpected interstitial 22q11.2 deletion causing truncus arteriosus and thymic hypoplasia in a ring 22 chromosome derived from a maternally inherited paracentric inversion.
McClarren J, Donnenfeld AE, Ravnan JB
Prenat Diagn 2006 Dec;26(13):1212-5. doi: 10.1002/pd.1590. PMID: 17099929
FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22).
Bartsch O, Rasi S, Hoffmann K, Blin N
Eur J Hum Genet 2005 May;13(5):592-8. doi: 10.1038/sj.ejhg.5201378. PMID: 15756300
Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22.
Coulter-Mackie MB, Rip J, Ludman MD, Beis J, Cole DE
J Med Genet 1995 Oct;32(10):787-91. doi: 10.1136/jmg.32.10.787. PMID: 8558556Free PMC Article

Clinical prediction guides

Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome.
Asta L, Ricciardello A, Cucinotta F, Turriziani L, Boncoddo M, Bellomo F, Angelini J, Gnazzo M, Scandolo G, Pisanò G, Pelagatti F, Chehbani F, Camia M, Persico AM
J Neurodev Disord 2024 Oct 3;16(1):57. doi: 10.1186/s11689-024-09572-7. PMID: 39363263Free PMC Article
Whole-genome sequencing analysis of an atypical teratoid/rhabdoid tumor in a patient with Phelan-McDermid syndrome: a case report and systematic review.
Yamashita H, Arakawa Y, Terada Y, Takeuchi Y, Mineharu Y, Sumiyoshi S, Tokunaga S, Nakajima K, Kawabata N, Tanaka K, Tanji M, Umeda K, Minamiguchi S, Ogawa S, Haga H, Takita J, Miyamoto S
Brain Tumor Pathol 2022 Oct;39(4):232-239. Epub 2022 Jun 24 doi: 10.1007/s10014-022-00440-7. PMID: 35750988
Molecular and phenotypic characterization of ring chromosome 22.
Jeffries AR, Curran S, Elmslie F, Sharma A, Wenger S, Hummel M, Powell J
Am J Med Genet A 2005 Aug 30;137(2):139-47. doi: 10.1002/ajmg.a.30780. PMID: 16059935
FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22).
Bartsch O, Rasi S, Hoffmann K, Blin N
Eur J Hum Genet 2005 May;13(5):592-8. doi: 10.1038/sj.ejhg.5201378. PMID: 15756300
Chromosome studies in IgA-deficient patients.
Taalman RD, Weemaes CM, Hustinx TW, Scheres JM, Clement JM, Stoelinga GB
Clin Genet 1987 Aug;32(2):81-7. doi: 10.1111/j.1399-0004.1987.tb03330.x. PMID: 3652494

Recent systematic reviews

Whole-genome sequencing analysis of an atypical teratoid/rhabdoid tumor in a patient with Phelan-McDermid syndrome: a case report and systematic review.
Yamashita H, Arakawa Y, Terada Y, Takeuchi Y, Mineharu Y, Sumiyoshi S, Tokunaga S, Nakajima K, Kawabata N, Tanaka K, Tanji M, Umeda K, Minamiguchi S, Ogawa S, Haga H, Takita J, Miyamoto S
Brain Tumor Pathol 2022 Oct;39(4):232-239. Epub 2022 Jun 24 doi: 10.1007/s10014-022-00440-7. PMID: 35750988

Supplemental Content

Table of contents

    Genetic Testing Registry

    Clinical resources

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    Reviews

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      Clinical tests in GTR
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