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Ring chromosome 13

MedGen UID:
444146
Concept ID:
C2931808
Cell or Molecular Dysfunction
Synonym: Chromosome 13 ring
 
Monarch Initiative: MONDO:0019907
Orphanet: ORPHA96176

Definition

A rare chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRing chromosome 13
Follow this link to review classifications for Ring chromosome 13 in Orphanet.

Professional guidelines

PubMed

Quelin C, Spaggiari E, Khung-Savatovsky S, Dupont C, Pasquier L, Loeuillet L, Jaillard S, Lucas J, Marcorelles P, Journel H, Pluquailec-Bilavarn K, Bazin A, Verloes A, Delezoide AL, Aboura A, Guimiot F
Am J Med Genet A 2014 Oct;164A(10):2504-9. Epub 2014 Jun 26 doi: 10.1002/ajmg.a.36658. PMID: 24975584
Chen CP, Tsai CH, Chern SR, Wu PS, Su JW, Lee CC, Chen YT, Chen WL, Chen LF, Wang W
Gene 2013 Oct 15;529(1):163-8. Epub 2013 Aug 8 doi: 10.1016/j.gene.2013.07.050. PMID: 23933417

Recent clinical studies

Etiology

Charalsawadi C, Maisrikhaw W, Praphanphoj V, Wirojanan J, Hansakunachai T, Roongpraiwan R, Sombuntham T, Ruangdaraganon N, Limprasert P
Cytogenet Genome Res 2014;144(1):1-8. Epub 2014 Aug 23 doi: 10.1159/000365909. PMID: 25171325
Sepulveda W, Dezerega V, Be C
J Ultrasound Med 2004 Jun;23(6):761-5; quiz 766-7. doi: 10.7863/jum.2004.23.6.761. PMID: 15244299
Filous A, Rasková D, Kodet R
Acta Ophthalmol Scand 1998 Dec;76(6):739-41. doi: 10.1034/j.1600-0420.1998.760624.x. PMID: 9881566
Martin NJ, Harvey PJ, Pearn JH
Hum Genet 1982;61(1):18-23. doi: 10.1007/BF00291324. PMID: 7129419

Diagnosis

Chen CP, Chen CY, Chern SR, Chen SW, Wu FT, Chen WL, Lee MS, Wang W
Taiwan J Obstet Gynecol 2021 Jul;60(4):771-774. doi: 10.1016/j.tjog.2021.05.033. PMID: 34247823
Hu XN, Li LL, Shi QY, Hu ZM, Zhang HG, Jiang YT, Liu RZ
Taiwan J Obstet Gynecol 2021 May;60(3):554-558. doi: 10.1016/j.tjog.2021.03.031. PMID: 33966748
Cammarata-Scalisi F, Briceño Y, Cegarra E, Montilla D
Bol Med Hosp Infant Mex 2019;76(2):100-103. doi: 10.24875/BMHIM.18000108. PMID: 30907385
Chen CP, Tsai CH, Chern SR, Wu PS, Su JW, Lee CC, Chen YT, Chen WL, Chen LF, Wang W
Gene 2013 Oct 15;529(1):163-8. Epub 2013 Aug 8 doi: 10.1016/j.gene.2013.07.050. PMID: 23933417
Sepulveda W, Dezerega V, Be C
J Ultrasound Med 2004 Jun;23(6):761-5; quiz 766-7. doi: 10.7863/jum.2004.23.6.761. PMID: 15244299

Therapy

Martin NJ, Harvey PJ, Pearn JH
Hum Genet 1982;61(1):18-23. doi: 10.1007/BF00291324. PMID: 7129419

Prognosis

Çakmaklı S, Çankaya T, Gürsoy S, Koç A, Kırbıyık Ö, Kılıçarslan ÖA, Özer E, Erçal D, Bozkaya ÖG
Cytogenet Genome Res 2017;153(4):175-180. Epub 2018 Mar 9 doi: 10.1159/000486775. PMID: 29518772
Sendt W, Rippe V, Flor I, Drieschner N, Bullerdiek J
Cancer Genet 2012 Mar;205(3):128-30. doi: 10.1016/j.cancergen.2012.01.010. PMID: 22469512
Martin NJ, Harvey PJ, Pearn JH
Hum Genet 1982;61(1):18-23. doi: 10.1007/BF00291324. PMID: 7129419

Clinical prediction guides

Charalsawadi C, Maisrikhaw W, Praphanphoj V, Wirojanan J, Hansakunachai T, Roongpraiwan R, Sombuntham T, Ruangdaraganon N, Limprasert P
Cytogenet Genome Res 2014;144(1):1-8. Epub 2014 Aug 23 doi: 10.1159/000365909. PMID: 25171325
Ocak Z, Ozlu T, Vural M
Genet Couns 2013;24(2):157-60. PMID: 24032285
Morrissette JD, Celle L, Owens NL, Shields CL, Zackai EH, Spinner NB
Am J Med Genet 2001 Feb 15;99(1):21-8. doi: 10.1002/1096-8628(20010215)99:1<21::aid-ajmg1122>3.0.co;2-x. PMID: 11170089
Parcheta B, Wisniewski L, Piontek E, Szymanska J, Skawinski W, Wermenski K
Eur J Pediatr 1985 Nov;144(4):409-12. doi: 10.1007/BF00441791. PMID: 4076259
Hernandez A, Garcia-Cruz D, Plascencia L, Nazara Z, Rivera H, Sanchez-Corona J, Cantu JM
Ann Genet 1979;22(4):221-4. PMID: 317785

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