Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 18 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. Chromosome 21 
    ... with this genetic change are said to have translocation Down syndrome.In a very small percentage of cases, Down ... diagnosed in childhood) has been associated with a translocation between chromosomes 12 and 21. ... of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes. Am J Hum Genet. ...
    https://medlineplus.gov/genetics/chromosome/21 - Genetics
  3. AFF4 gene 
    ... in an AFF4 protein that is not broken down when it is no longer needed, so more ... rearrangements (translocations) that are found in certain blood cancers called ...
    https://medlineplus.gov/genetics/gene/aff4 - Genetics
  4. UBE3A gene 
    ... contains the UBE3A gene can also cause Angelman syndrome. These chromosomal changes include rearrangements (translocations) of genetic material or a defect in the ...
    https://medlineplus.gov/genetics/gene/ube3a - Genetics
  5. SLCO1B1 gene 
    ... cleared from the body. For example, the OATP1B1 protein transports bilirubin, which is a yellowish substance that is produced when red blood cells are broken down. In the liver, bilirubin is dissolved in a ...
    https://medlineplus.gov/genetics/gene/slco1b1 - Genetics
  6. SLCO1B3 gene 
    ... cleared from the body. For example, the OATP1B3 protein transports bilirubin, which is a yellowish substance that is produced when red blood cells are broken down. In the liver, bilirubin is dissolved in a ...
    https://medlineplus.gov/genetics/gene/slco1b3 - Genetics
  7. 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
  8. NOTCH1 gene 
    ... the NOTCH1 gene mutations involved in Adams-Oliver syndrome lead to production of an abnormally short protein that is likely broken down quickly, causing a shortage of Notch1. Other mutations ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
  9. EPG5 gene 
    ... foreign invaders such as bacteria and viruses. The protein transports molecules from these ... have been found to cause Vici syndrome, a severe condition that primarily affects the brain, ...
    https://medlineplus.gov/genetics/gene/epg5 - Genetics
  10. 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
previous · 1 · 2 · next