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Ring chromosome 10

MedGen UID:: 539252
•Concept ID:: C0265438
•: Disease or Syndrome

Synonyms:	chromosome 10 ring; r10; Ring 10; ring chromosome 10; Ring chromosome 10 syndrome; Ring chromosome type 10
SNOMED CT:	Ring chromosome 10 syndrome (86997002)
Modes of inheritance:	Unknown inheritance MedGen UID: 989040 •Concept ID: CN307042 • Finding Source: Orphanet Hereditary clinical entity whose mode of inheritance is unknown. See: This record Not genetically inherited MedGen UID: 988794 •Concept ID: CN307044 • Finding Source: Orphanet clinical entity without genetic inheritance. See: This record Unknown inheritance (Orphanet) Not genetically inherited (Orphanet)

Monarch Initiative:	MONDO:0015431
Orphanet:	ORPHA1438

Definition

An autosomal anomaly with characteristics of variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly and dysmorphic features. Congenital heart disease and genitourinary anomalies are reported in some cases. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVRing chromosome 10

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Ring chromosome 10

Recent clinical studies

Etiology

Dysregulation of HMGIC in a uterine lipoleiomyoma with a complex rearrangement including chromosomes 7, 12, and 14.

Pedeutour F, Quade BJ, Sornberger K, Tallini G, Ligon AH, Weremowicz S, Morton CC
Genes Chromosomes Cancer 2000 Feb;27(2):209-15. PMID: 10612811

Ring chromosome 10:46,XX,r(10)(p15 leads to q26).

Tsukino R, Tsuda N, Dezawa T, Ishii T, Koike M
J Med Genet 1980 Apr;17(2):148-50. doi: 10.1136/jmg.17.2.148. PMID: 7381872 Free PMC Article

See all (2)

Diagnosis

Clinical and molecular description of a fetus in prenatal diagnosis with a rare de novo ring 10 and deletions of 12.59 Mb in 10p15.3-p14 and 4.22 Mb in 10q26.3.

Christopoulou G, Tzetis M, Konstantinidou AE, Tsezou A, Kanavakis E, Kitsiou-Tzeli S, Velissariou V
Eur J Med Genet 2012 Jan;55(1):75-9. Epub 2011 Sep 9 doi: 10.1016/j.ejmg.2011.08.002. PMID: 21914491

First small supernumerary ring chromosome carrying 10q euchromatin in a patient with mild phenotype characterized by molecular cytogenetic techniques and review of the literature.

Trimborn M, Grueters A, Neitzel H, Tönnies H
Cytogenet Genome Res 2005;108(4):278-82. doi: 10.1159/000081524. PMID: 15627745

Ring chromosome 10 syndrome: case report and the possibility of clinical diagnosis.

Kondo I, Shimakura Y, Hirano T, Kaneko M, Yabuta K
Clin Genet 1984 Feb;25(2):196-200. doi: 10.1111/j.1399-0004.1984.tb00485.x. PMID: 6705254

See all (3)

Therapy

Ring Chromosome 10 in a Case of Acute Promyelocytic Leukemia.

Shehzad S, Nadeem M, Shan S, Shamsi TS
J Coll Physicians Surg Pak 2016 Nov;26(11):941-942. PMID: 27981936

See all (1)

Prognosis

Ring Chromosome 10 in a Case of Acute Promyelocytic Leukemia.

Shehzad S, Nadeem M, Shan S, Shamsi TS
J Coll Physicians Surg Pak 2016 Nov;26(11):941-942. PMID: 27981936

Clinical and molecular description of a fetus in prenatal diagnosis with a rare de novo ring 10 and deletions of 12.59 Mb in 10p15.3-p14 and 4.22 Mb in 10q26.3.

Ring chromosome 10:46,XX,r(10)(p15 leads to q26).

Tsukino R, Tsuda N, Dezawa T, Ishii T, Koike M
J Med Genet 1980 Apr;17(2):148-50. doi: 10.1136/jmg.17.2.148. PMID: 7381872 Free PMC Article

See all (3)

Clinical prediction guides

Dysregulation of HMGIC in a uterine lipoleiomyoma with a complex rearrangement including chromosomes 7, 12, and 14.

Pedeutour F, Quade BJ, Sornberger K, Tallini G, Ligon AH, Weremowicz S, Morton CC
Genes Chromosomes Cancer 2000 Feb;27(2):209-15. PMID: 10612811

Ring chromosome 10 syndrome: case report and the possibility of clinical diagnosis.

Kondo I, Shimakura Y, Hirano T, Kaneko M, Yabuta K
Clin Genet 1984 Feb;25(2):196-200. doi: 10.1111/j.1399-0004.1984.tb00485.x. PMID: 6705254

Ring chromosome 10 associated with multiple congenital malformations.

Simoni G, Rossella F, Dalprà L, Visconti G, Piria-Schwarz C
Hum Genet 1979 Oct 1;51(2):117-21. doi: 10.1007/BF00287164. PMID: 511137

See all (3)

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Ring chromosome 10

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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Genetic Testing Registry

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