Results 1 -
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22
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X small rings
- ... Rodeschini O, Atza MG, Natacci F, Larizza L. Small familial supernumerary ring chromosome 2: ... Citation on PubMed Hillier LW, Graves TA, Fulton ...
- ... most do not develop any symptoms associated with X-linked sideroblastic anemia. However, carriers may have abnormally small, pale red blood cells and related changes that ...
- ... develop ataxia or other health problems associated with X-linked sideroblastic anemia and ataxia. However, carriers may have abnormally small, pale red blood cells and related changes that ...
- ... people with a form of porphyria known as X-linked dominant erythropoietic protoporphyria. Each of these mutations deletes a small amount of genetic material near the end of ...
- ... the broken ends join together to form a ring. Individuals with this chromosome abnormality often have intellectual disability, an unusually small head (microcephaly), widely spaced eyes (hypertelorism), low-set ...
- ... as sitting, standing, and walking.Additional features of ring chromosome 14 syndrome can include slow growth and short stature, a small head (microcephaly), puffy hands and/or feet caused ...
- ... Kumazawa M, Ueno S. Mosaicism and phenotype in ring chromosome 20 syndrome. Acta Neurol Scand. 2005 Mar;111(3):205-8. doi: 10.1111/j.1600-0404.2005.00298.x. Citation on PubMed Oppenheimer S, Dignan P, Soukup ...
- ... a prominent, high-bridged nose and an unusually small jaw (micrognathia) and chin. Affected individuals typically have pinky fingers that are curved toward or away from the ring finger (fifth finger clinodactyly) or permanently flexed (camptodactyly), ...
- ... red blood cells that are present are unusually small (erythrocytic microcytosis). In addition, developing red blood cells in the bone marrow (erythroblasts) can have an abnormal buildup of iron that appears as a ring of blue staining in the cell after treatment ...
- ... MK, Lockhart LH, Tonk VS. De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature. Clin Genet. 2002 Mar;61(3):202-6. doi: 10.1034/j.1399-0004.2002.610306.x. Citation on PubMed Zeesman S, Nowaczyk MJ, Teshima ...