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Ring chromosome 9

MedGen UID:
539244
Concept ID:
C0265430
Disease or Syndrome
Synonym: Ring 9
SNOMED CT: Ring chromosome 9 syndrome (60650002)
 
Monarch Initiative: MONDO:0019905
Orphanet: ORPHA96173

Definition

An autosomal anomaly with characteristics of variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies and variable genital, limb and skeletal anomalies. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRing chromosome 9

Professional guidelines

PubMed

Yan Y, Yang Z, Li Y, Pei Q, Zhang X, Wang Y, Yin X, Zhang L, Ren M, Liu G
J Obstet Gynaecol Res 2023 Sep;49(9):2273-2282. Epub 2023 Jun 24 doi: 10.1111/jog.15712. PMID: 37354102
Farkas G, Székely G, Goda V, Kállay KM, Kocsis ZS, Szakszon K, Benyó G, Erdélyi D, Liptai Z, Csordás K, Kertész G, Szegedi I, Kriván G, Takácsi-Nagy Z, Polgár C, Jurányi Z
Eur J Haematol 2023 Aug;111(2):254-262. Epub 2023 May 16 doi: 10.1111/ejh.13990. PMID: 37194391
Dujardin F, Binh MB, Bouvier C, Gomez-Brouchet A, Larousserie F, Muret Ad, Louis-Brennetot C, Aurias A, Coindre JM, Guillou L, Pedeutour F, Duval H, Collin C, de Pinieux G
Mod Pathol 2011 May;24(5):624-37. Epub 2011 Feb 18 doi: 10.1038/modpathol.2010.229. PMID: 21336260

Recent clinical studies

Etiology

Vieler LM, Nilius-Eliliwi V, Schroers R, Vangala DB, Nguyen HP, Gerding WM
Genes (Basel) 2023 Mar 9;14(3) doi: 10.3390/genes14030686. PMID: 36980958Free PMC Article
Nakajima S, Yanagisawa M, Kamoshita S, Nakagome Y
Hum Genet 1976 Jun 29;32(3):289-93. doi: 10.1007/BF00295818. PMID: 939548

Diagnosis

Vieler LM, Nilius-Eliliwi V, Schroers R, Vangala DB, Nguyen HP, Gerding WM
Genes (Basel) 2023 Mar 9;14(3) doi: 10.3390/genes14030686. PMID: 36980958Free PMC Article
Chai H, Ji W, Wen J, DiAdamo A, Grommisch B, Hu Q, Szekely AM, Li P
Am J Med Genet A 2020 Dec;182(12):3023-3028. Epub 2020 Sep 26 doi: 10.1002/ajmg.a.61890. PMID: 32978894
Penacho V, Galán F, Martín-Bayón TA, Mayo S, Manchón I, Carrasco A, Martínez-Castellano F, Alcaraz LA
Cytogenet Genome Res 2014;144(4):275-9. Epub 2015 Feb 20 doi: 10.1159/000370256. PMID: 25722017
Aldemir O, Celik IH, Karaer K, Ceylaner G
Genet Couns 2013;24(4):357-60. PMID: 24551976
Majeed-Saidan MA, Joyce B, Khan M, Hamam HD
Clin Endocrinol (Oxf) 1993 Feb;38(2):191-5. doi: 10.1111/j.1365-2265.1993.tb00992.x. PMID: 8435899

Prognosis

Majeed-Saidan MA, Joyce B, Khan M, Hamam HD
Clin Endocrinol (Oxf) 1993 Feb;38(2):191-5. doi: 10.1111/j.1365-2265.1993.tb00992.x. PMID: 8435899

Clinical prediction guides

Aldemir O, Celik IH, Karaer K, Ceylaner G
Genet Couns 2013;24(4):357-60. PMID: 24551976
Sheth J, Joshi R, Sheth F
Indian J Pediatr 2007 May;74(5):507-8. doi: 10.1007/s12098-007-0090-2. PMID: 17526969
Lanzi G, Fazzi E, Veggiotti P, Pagliano E, Gariglio M, Bonaglia C, Landolfo S
Brain Dev 1996 May-Jun;18(3):216-9. doi: 10.1016/0387-7604(95)00144-1. PMID: 8836504
Majeed-Saidan MA, Joyce B, Khan M, Hamam HD
Clin Endocrinol (Oxf) 1993 Feb;38(2):191-5. doi: 10.1111/j.1365-2265.1993.tb00992.x. PMID: 8435899
Nakajima S, Yanagisawa M, Kamoshita S, Nakagome Y
Hum Genet 1976 Jun 29;32(3):289-93. doi: 10.1007/BF00295818. PMID: 939548

Supplemental Content

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