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Results 1 - 6 of 6 for Translocation Down syndrome
  1. Down syndrome 
    ... with this genetic change are said to have translocation Down syndrome. A very small percentage of people with Down ... each of the body's cells.People with translocation Down syndrome can inherit the condition from an unaffected parent. ...
    https://medlineplus.gov/genetics/condition/down-syndrome - Genetics
  2. Histiocytosis-lymphadenopathy plus syndrome 
    ... found in cellular structures called lysosomes, which break down large molecules into smaller ones that can be reused by cells. Researchers believe that this protein transports nucleosides generated by the breakdown of DNA and ...
    https://medlineplus.gov/...stiocytosis-lymphadenopathy-plus-syndrome - Genetics
  3. Cohen syndrome 
    ... JP, de la Chapelle A, Lehesjoki AE. Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Am J Hum Genet. 2003 Jun;72(6): ...
    https://medlineplus.gov/genetics/condition/cohen-syndrome - Genetics
  4. Carpenter syndrome 
    ... several characteristic facial features in people with Carpenter syndrome. Distinctive facial features may include a flat nasal bridge, outside corners of the eyes that point downward (down-slanting palpebral fissures), low-set and abnormally shaped ...
    https://medlineplus.gov/genetics/condition/carpenter-syndrome - Genetics
  5. Ornithine translocase deficiency 
    ... down excess nitrogen, made when protein is broken down by the body, to make ... the protein transports a molecule called ornithine so it can participate ...
    https://medlineplus.gov/.../ornithine-translocase-deficiency - Genetics
  6. Bare lymphocyte syndrome type I 
    ... Parcej D, Tampe R. ABC proteins in antigen translocation and viral inhibition. Nat ... syndrome mimicking Wegener's granulomatosis. Arthritis Rheum. 2008 Aug; ...
    https://medlineplus.gov/.../bare-lymphocyte-syndrome-type-i - Genetics