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Results 1 - 10 of 15 for Ring chromosome 20 syndrome
  1. Chromosome 20 
    ... certain facial features. More About This Health Condition Ring chromosome 20 syndrome is caused by a chromosomal abnormality known as ... and its broken ends fuse together. People with ring chromosome 20 syndrome have one copy of this abnormal chromosome in ...
    https://medlineplus.gov/genetics/chromosome/20 - Genetics
  2. Chromosome 22 
    ... in Dermatofibrosarcoma protuberans (DP). Oncogene. 2001 May 24;20(23):2965-75. ... M. 22q11 deletion syndrome: a review of the neuropsychiatric features and their ...
    https://medlineplus.gov/genetics/chromosome/22 - Genetics
  3. Chromosome 14 
    ... this disorder.Epilepsy is a common feature of ring chromosome syndromes, including ring chromosome 14. There may be something ... causes signs and symptoms similar to those of ring chromosome 14 syndrome (described above). Terminal deletion 14 syndrome is caused ...
    https://medlineplus.gov/genetics/chromosome/14 - Genetics
  4. Chromosome 2 
    ... of 2q detected using FISH: Further support for "ring chromosome 2 syndrome". Am J Med Genet A. 2005 Feb 1; ... LP, Bunina EN. Characterization of a small supernumerary ring marker derived ... 26;87(3):217-20. Citation on PubMed Stevens-Kroef M, Poppe B, ...
    https://medlineplus.gov/genetics/chromosome/2 - Genetics
  5. Chromosome 11 
    ... and the other characteristic features of Beckwith-Wiedemann syndrome.About 20 percent of cases of Beckwith-Wiedemann syndrome are caused by a genetic change known as ...
    https://medlineplus.gov/genetics/chromosome/11 - Genetics
  6. Chromosome 15 
    ... four copies of the duplicated segment.In about 20 percent of cases of dup15q syndrome, the duplication occurs on the q arm of ... a circular structure called ring chromosome 15. A ring chromosome occurs when a chromosome breaks in two places and the ends of the ... Battaglia A. The inv dup (15) or idic (15) syndrome (Tetrasomy 15q). Orphanet J Rare Dis. 2008 Nov ...
    https://medlineplus.gov/genetics/chromosome/15 - Genetics
  7. Chromosome 3 
    ... most often deleted in people with 3q29 microdeletion syndrome includes about 20 genes. Some of these genes are thought to be involved in brain development. However, it is unknown which specific ... of 3q29 microdeletion syndrome. It is also unclear why some people with ...
    https://medlineplus.gov/genetics/chromosome/3 - Genetics
  8. Chromosome 7 
    ... CB, Osborne LR, Porter M, Pober BR. Williams syndrome. Nat Rev Dis Primers. 2021 Jun ... ring chromosome 7 mosaicism: case report, investigation of the gene ...
    https://medlineplus.gov/genetics/chromosome/7 - Genetics
  9. Chromosome 5 
    ... and a circular structure called ring chromosome 5. Ring chromosomes occur when a ... called 5q minus syndrome (described above), other deletions are related to other ...
    https://medlineplus.gov/genetics/chromosome/5 - Genetics
  10. Chromosome 17 
    ... described above) and CMT1A (described above). In YUHAL syndrome, the duplicated segment ranges in size from about 3 Mb to nearly 20 Mb and always contains the RAI1 and PMP22 ...
    https://medlineplus.gov/genetics/chromosome/17 - Genetics
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