Ring chromosome 20

Other names| Ring 20

Ring chromosome 20 syndrome is one of the more common ring chromosome-associated conditions.[1] This occurs when both ends of chromosome 20 are deleted and the ends join together to form a ring. The most obvious feature of this condition is epilepsy.

Epilepsy usually manifests in infancy or early childhood, and usually does not respond well to medication.[2][3]

Some people with ring 20 chromosome have intellectual disability. A minority of those affected have abnormal facial features, low muscle tone, behavioral problems, or short stature.[1]

## References

1. ↑ 1.0 1.1 "Ring 20". http://www.rarechromo.org/information/Chromosome 20/Ring 20 FTNW.pdf. Retrieved 1 December 2017.
2. ↑ "Ring chromosome 20 - Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". https://rarediseases.info.nih.gov/diseases/1334/index. Retrieved 1 December 2017.
3. ↑ "Orphanet: Ring chromosome 20 syndrome". http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1078&Disease_Disease_Search_diseaseGroup=Ring-20&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group+of+diseases=Ring-chromosome-20-syndrome&title=Ring-chromosome-20-syndrome&search=Disease_Search_Simple. Retrieved 1 December 2017.

## External links

Classification|

|

External resources|

* Orphanet: 1444

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* t
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Chromosome abnormalities (Q90–Q99, 758)

Autosomal|

| Trisomies|

* Down syndrome
* 21
* Edwards syndrome
* 18
* Patau syndrome
* 13

* Trisomy 9
* Warkany syndrome 2
* 8
* Cat eye syndrome/Trisomy 22
* 22
* Trisomy 16

|

Monosomies/deletions|

* 1q21.1 deletion syndrome/1q21.1 duplication syndrome/TAR syndrome
* 1
* Wolf–Hirschhorn syndrome
* 4
* Cri du chat/Chromosome 5q deletion syndrome
* 5
* Williams syndrome
* 7
* Jacobsen syndrome
* 11
* Miller–Dieker syndrome/Smith–Magenis syndrome
* 17
* DiGeorge syndrome
* 22
* 22q11.2 distal deletion syndrome
* 22
* 22q13 deletion syndrome
* 22

* genomic imprinting
* Angelman syndrome/Prader–Willi syndrome (15)

* Distal 18q-/Proximal 18q-

X/Y linked|

| Monosomy|

* Turner syndrome (45,X)

|

Trisomy/tetrasomy,
other karyotypes/mosaics|

* Klinefelter syndrome (47,XXY)
* XXYY syndrome (48,XXYY)
* XXXY syndrome (48,XXXY)
* 49,XXXYY
* 49,XXXXY

* Triple X syndrome (47,XXX)
* Tetrasomy X (48,XXXX)
* 49,XXXXX

* Jacobs syndrome (47,XYY)
* 48,XYYY
* 49,XYYYY

* 45,X/46,XY

Translocations|

| Leukemia/lymphoma|

| Lymphoid|

* Burkitt's lymphoma t(8 MYC;14 IGH)
* Follicular lymphoma t(14 IGH;18 BCL2)
* Mantle cell lymphoma/Multiple myeloma t(11 CCND1:14 IGH)
* Anaplastic large-cell lymphoma  t(2 ALK;5 NPM1)
* Acute lymphoblastic leukemia

|

Myeloid|

* Philadelphia chromosome t(9 ABL; 22 BCR)
* Acute myeloblastic leukemia with maturation t(8 RUNX1T1;21 RUNX1)
* Acute promyelocytic leukemia t(15 PML,17 RARA)
* Acute megakaryoblastic leukemia t(1 RBM15;22 MKL1)

Other|

* Ewing's sarcoma t(11 FLI1; 22 EWS)
* Synovial sarcoma t(x SYT;18 SSX)
* Dermatofibrosarcoma protuberans t(17 COL1A1;22 PDGFB)
* Myxoid liposarcoma t(12 DDIT3; 16 FUS)
* Desmoplastic small-round-cell tumor t(11 WT1; 22 EWS)
* Alveolar rhabdomyosarcoma t(2 PAX3; 13 FOXO1) t (1 PAX7; 13 FOXO1)

Other|

* Fragile X syndrome
* Uniparental disomy
* XX male syndrome/46,XX testicular disorders of sex development
* Marker chromosome
* Ring chromosome
* 6; 9; 14; 15; 18; 20; 21, 22

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