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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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVRing chromosome 1

Abnormality of prenatal development or birth
- Fetal anomaly
  - Congenital chromosomal disease
    - Autosomal anomaly
      - Autosomal monosomy
        Ring chromosome
        Ring 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

See all (2)

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: 19536326 Free 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

See all (4)

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.

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

See all (4)

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

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

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

See all (8)

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Ring chromosome 1

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

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Genetic Testing Registry

Clinical resources

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Reviews

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