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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

Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report.
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
Deletion of HMG17 in uterine leiomyomas with ring chromosome 1.
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

DEAR1 is a dominant regulator of acinar morphogenesis and an independent predictor of local recurrence-free survival in early-onset breast cancer.
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
Prenatal diagnosis of supernumerary ring chromosome 1: case report and review of the literature.
Wray AM, Dennis TR, Ghidini A, Gorman B, Haddad BR, Meck JM
Genet Couns 2007;18(2):233-41. PMID: 17710876
Clonal karyotype evolution involving ring chromosome 1 with myelodysplastic syndrome subtype RAEB-t progressing into acute leukemia.
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
Characterization of the first supernumerary tricentric ring chromosome 1 mosaicism by conventional and molecular cytogenetic techniques.
Tönnies H, Hennies HC, Spohr HL, Neitzel H
Cytogenet Genome Res 2003;103(1-2):28-33. doi: 10.1159/000076285. PMID: 15004460

Prognosis

Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report.
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
DEAR1 is a dominant regulator of acinar morphogenesis and an independent predictor of local recurrence-free survival in early-onset breast cancer.
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
Clonal karyotype evolution involving ring chromosome 1 with myelodysplastic syndrome subtype RAEB-t progressing into acute leukemia.
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
Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literature.
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

Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report.
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
Clonal karyotype evolution involving ring chromosome 1 with myelodysplastic syndrome subtype RAEB-t progressing into acute leukemia.
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
Supernumerary der(1) marker chromosome derived from a ring chromosome 1 which has retained the original centromere and euchromatin from 1q21.1 --> q21.3 with substantial loss of 1q12 heterochromatin in a female with dysmorphic features and psychomotoric developmental delay.
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
M-FISH in gastric lymphoma.
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
Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literature.
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

Supplemental Content

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    Clinical resources

    Reviews

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    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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