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Results 1 - 6 of 6 for Ring chromosome 20 syndrome
  1. Ring chromosome 20 syndrome 
    Ring chromosome 20 syndrome is a condition that affects the normal development and function of the brain. The most common ... status epilepticus also appear to be characteristic of ring chromosome 20 syndrome. These episodes involve confusion and behavioral changes.Most ...
    https://medlineplus.gov/.../condition/ring-chromosome-20-syndrome - Genetics
  2. Pallister-Killian mosaic syndrome 
    ... 10.1002/ajmg.a.35722. Epub 2012 Nov 20. Citation on PubMed Yeung A, Francis D, Giouzeppos O, Amor DJ. Pallister-Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p. Am J Med Genet A. 2009 Mar; ...
    https://medlineplus.gov/.../pallister-killian-mosaic-syndrome - Genetics
  3. 22q13.3 deletion syndrome 
    ... chromosome 22 can also cause 22q13.3 deletion syndrome. A ring chromosome is a circular structure that occurs when a ... points is at position 22q13.3, people with ring chromosome 22 have similar ... of 22q13.3 deletion syndrome. They have determined that the loss of a ...
    https://medlineplus.gov/genetics/condition/22q133-deletion-syndrome - Genetics
  4. Pearson syndrome 
    ... breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes. PLoS One. 2010 Dec 20;5(12):e15687. doi: 10.1371/journal.pone.0015687. Erratum In: PLoS One. 2017 Nov 20;12(11):e0188610. doi: ... of four children with Pearson syndrome. Am J Med Genet A. 2011 Dec;155A( ...
    https://medlineplus.gov/genetics/condition/pearson-syndrome - Genetics
  5. Opitz G/BBB syndrome 
    ... some cases of autosomal dominant Opitz G/BBB syndrome. J Med Genet. 2015 Feb;52(2):104-10. doi: 10.1136/jmedgenet-2014-102677. Epub 2014 Nov 20. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/condition/opitz-g-bbb-syndrome - Genetics
  6. Bowen-Conradi syndrome 
    ... B. Growth arrest in the ribosomopathy, Bowen-Conradi syndrome, is due to dramatically reduced cell proliferation and a defect in mitotic progression. Biochim Biophys Acta. 2015 May;1852(5):1029-37. doi: 10.1016/j.bbadis.2015.02.007. Epub 2015 Feb 20. Citation on PubMed Armistead J, Triggs-Raine B. ...
    https://medlineplus.gov/genetics/condition/bowen-conradi-syndrome - Genetics