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Ring chromosome 1

MedGen UID:
539215
Concept ID:
C0265395
Disease or Syndrome
Synonyms: chromosome 1 ring; chromosome 1, ring; r(1) syndrome; R1; Ring 1; ring chromosome 1; Ring chromosome 1 syndrome; Ring chromosome type 1
SNOMED CT: Ring chromosome 1 syndrome (47017007)
 
Monarch Initiative: MONDO:0015430
Orphanet: ORPHA1437

Definition

An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRing chromosome 1

Recent clinical studies

Etiology

Kosztolányi G, Brecevic L, Bajnòczky K, Schinzel A, Riegel M
Eur J Med Genet 2011 Mar-Apr;54(2):152-6. Epub 2010 Dec 9 doi: 10.1016/j.ejmg.2010.11.015. PMID: 21145991
Polito P, Dal Cin P, Kazmierczak B, Rogalla P, Bullerdiek J, Van den Berghe H
Cancer Genet Cytogenet 1999 Jan 15;108(2):107-9. doi: 10.1016/s0165-4608(98)00128-9. PMID: 9973936

Diagnosis

Lott ST, Chen N, Chandler DS, Yang Q, Wang L, Rodriguez M, Xie H, Balasenthil S, Buchholz TA, Sahin AA, Chaung K, Zhang B, Olufemi SE, Chen J, Adams H, Band V, El-Naggar AK, Frazier ML, Keyomarsi K, Hunt KK, Sen S, Haffty B, Hewitt SM, Krahe R, Killary AM
PLoS Med 2009 May 26;6(5):e1000068. Epub 2009 May 5 doi: 10.1371/journal.pmed.1000068. PMID: 19536326Free PMC Article
Wray AM, Dennis TR, Ghidini A, Gorman B, Haddad BR, Meck JM
Genet Couns 2007;18(2):233-41. PMID: 17710876
Duell T, Poleck-Dehlin B, Schmid C, Wunderlich B, Ledderose G, Mittermuller J, Kolb HJ, Schmetzer H
Acta Haematol 2006;116(2):131-6. doi: 10.1159/000093644. PMID: 16914909
Tönnies H, Hennies HC, Spohr HL, Neitzel H
Cytogenet Genome Res 2003;103(1-2):28-33. doi: 10.1159/000076285. PMID: 15004460

Prognosis

Kosztolányi G, Brecevic L, Bajnòczky K, Schinzel A, Riegel M
Eur J Med Genet 2011 Mar-Apr;54(2):152-6. Epub 2010 Dec 9 doi: 10.1016/j.ejmg.2010.11.015. PMID: 21145991
Lott ST, Chen N, Chandler DS, Yang Q, Wang L, Rodriguez M, Xie H, Balasenthil S, Buchholz TA, Sahin AA, Chaung K, Zhang B, Olufemi SE, Chen J, Adams H, Band V, El-Naggar AK, Frazier ML, Keyomarsi K, Hunt KK, Sen S, Haffty B, Hewitt SM, Krahe R, Killary AM
PLoS Med 2009 May 26;6(5):e1000068. Epub 2009 May 5 doi: 10.1371/journal.pmed.1000068. PMID: 19536326Free PMC Article
Duell T, Poleck-Dehlin B, Schmid C, Wunderlich B, Ledderose G, Mittermuller J, Kolb HJ, Schmetzer H
Acta Haematol 2006;116(2):131-6. doi: 10.1159/000093644. PMID: 16914909
Tönnies H, Neumann LM, Grüneberg B, Neitzel H
Am J Med Genet A 2003 Aug 30;121A(2):163-7. doi: 10.1002/ajmg.a.20225. PMID: 12910498

Clinical prediction guides

Kosztolányi G, Brecevic L, Bajnòczky K, Schinzel A, Riegel M
Eur J Med Genet 2011 Mar-Apr;54(2):152-6. Epub 2010 Dec 9 doi: 10.1016/j.ejmg.2010.11.015. PMID: 21145991
Duell T, Poleck-Dehlin B, Schmid C, Wunderlich B, Ledderose G, Mittermuller J, Kolb HJ, Schmetzer H
Acta Haematol 2006;116(2):131-6. doi: 10.1159/000093644. PMID: 16914909
Barbi G, Spaich Ch, Adolph S, Rossier E, Kehrer-Sawatzki H
Am J Med Genet A 2005 Feb 1;132A(4):419-24. doi: 10.1002/ajmg.a.30491. PMID: 15633178
Ferti AD, Panani AD, Stamouli MI, Rondogianni DP, Raptis SA, Young BD
Cancer Genet Cytogenet 2004 Nov;155(1):63-6. doi: 10.1016/j.cancergencyto.2004.02.015. PMID: 15527904
Polito P, Dal Cin P, Kazmierczak B, Rogalla P, Bullerdiek J, Van den Berghe H
Cancer Genet Cytogenet 1999 Jan 15;108(2):107-9. doi: 10.1016/s0165-4608(98)00128-9. PMID: 9973936

Supplemental Content

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    Genetic Testing Registry

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