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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

Etiology

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
Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.
Joyce CA, Zorich B, Pike SJ, Barber JC, Dennis NR
J Med Genet 1996 Dec;33(12):986-92. doi: 10.1136/jmg.33.12.986. PMID: 9004128Free PMC Article
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
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
Phenotypic correlations in patients with ring chromosome 22.
Hunter AG, Ray M, Wang HS, Thompson DR
Clin Genet 1977 Oct;12(4):239-49. doi: 10.1111/j.1399-0004.1977.tb00933.x. PMID: 912941

Diagnosis

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
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).
Kurtas N, Arrigoni F, Errichiello E, Zucca C, Maghini C, D'Angelo MG, Beri S, Giorda R, Bertuzzo S, Delledonne M, Xumerle L, Rossato M, Zuffardi O, Bonaglia MC
J Med Genet 2018 Apr;55(4):269-277. Epub 2018 Jan 29 doi: 10.1136/jmedgenet-2017-105125. PMID: 29378768Free PMC Article
Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.
Guilherme RS, Soares KC, Simioni M, Vieira TP, Gil-da-Silva-Lopes VL, Kim CA, Brunoni D, Spinner NB, Conlin LK, Christofolini DM, Kulikowski LD, Steiner CE, Melaragno MI
Am J Med Genet A 2014 Jul;164A(7):1659-65. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36512. PMID: 24700634
Azoospermia and paternal autosomal ring chromosomes: case report and literature review.
Rajesh H, Freckmann ML, Chapman M
Reprod Biomed Online 2011 Oct;23(4):466-70. Epub 2011 May 27 doi: 10.1016/j.rbmo.2011.05.013. PMID: 21843971
Prenatal diagnosis of mosaic ring chromosome 22 associated with cardiovascular abnormalities and intrauterine growth restriction.
Chen CP, Chern SR, Chang TY, Lee CC, Chen LF, Tzen CY, Wang W, Lin CJ, Yang BP, Yang LS
Prenat Diagn 2003 Jan;23(1):40-3. doi: 10.1002/pd.517. PMID: 12533811

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

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
Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22.
Battini R, Battaglia A, Bertini V, Cioni G, Parrini B, Rapalini E, Simi P, Tinelli F, Valetto A
Am J Med Genet A 2004 Oct 1;130A(2):196-9. doi: 10.1002/ajmg.a.30276. PMID: 15372517
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

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