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Results 1 - 10 of 12 for Mosaic Turner syndrome
  1. Turner syndrome 
    ... by X chromosome mosaicism are said to have mosaic Turner syndrome.Researchers have not determined which genes on the ... and will be missing the other sex chromosome. Mosaic Turner syndrome is also not inherited. In an affected individual, ...
    https://medlineplus.gov/genetics/condition/turner-syndrome - Genetics
  2. X chromosome 
    ... 45,X/46,XY) are said to have mosaic Turner syndrome.Researchers have not determined which genes on the ...
    https://medlineplus.gov/genetics/chromosome/x - Genetics
  3. Can changes in the number of chromosomes affect health and development?: MedlinePlus Genetics 
    ... while other cells have the usual 46 chromosomes. Mosaic Turner syndrome is one example of chromosomal mosaicism. In females ...
    https://medlineplus.gov/.../chromosomalconditions - Genetics
  4. Proteus syndrome 
    ... TN, Tosi LL, Mullikin JC, Biesecker LG. A mosaic activating mutation in AKT1 ... Turner JT, Cohen MM Jr, Biesecker LG. Reassessment of ...
    https://medlineplus.gov/genetics/condition/proteus-syndrome - Genetics
  5. AKT1 gene 
    ... TN, Tosi LL, Mullikin JC, Biesecker LG. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med. 2011 Aug 18;365( ...
    https://medlineplus.gov/genetics/gene/akt1 - Genetics
  6. Partington syndrome 
    ... will not (a situation known as mosaicism). The mosaic nature of these genetic changes lead to relatively mild features of Partington syndrome. MRX36 Partington X-linked mental retardation syndrome Partington- ...
    https://medlineplus.gov/genetics/condition/partington-syndrome - Genetics
  7. Kleefstra syndrome 
    ... of chromosome 9.A few individuals with Kleefstra syndrome have inherited the chromosome 9q34.3 deletion from an unaffected parent who is mosaic for the deletion. Mosaic means that an individual ...
    https://medlineplus.gov/genetics/condition/kleefstra-syndrome - Genetics
  8. Chromosome 7 
    ... Citation on PubMed Johnston JJ, Olivos-Glander I, Turner J, ... gene deletion syndrome and its distinction from acrocallosal syndrome. Am J ...
    https://medlineplus.gov/genetics/chromosome/7 - Genetics
  9. FGFR1 gene 
    ... function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet. 2003 Apr;33(4):463-5. doi: 10.1038/ng1122. Epub 2003 Mar 10. Citation on PubMed Elbauomy Elsheikh S, Green AR, Lambros MB, Turner NC, Grainge MJ, Powe D, Ellis IO, Reis- ...
    https://medlineplus.gov/genetics/gene/fgfr1 - Genetics
  10. CASK-related intellectual disability 
    ... recognizable phenotype and first description of a male mosaic patient. Orphanet J ... RE, Tolmie J, Yates JR, Turner G, Wilson M, Futreal AP, Corbett M, Shaw ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
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