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193 results
  1. ... changes (i.e. deletions, trans- locations, inversions, and trisomies). ... and Moreo. (17), (18), (19) Forni et. al. examined chromosomal changes and ...
  2. ... 2-q13.1 within chromosome 15, resulting in trisomy for 15q11.2-q13.1 (~20-40%). Management. ... 2-q13.1 within chromosome 15, resulting in trisomy for 15q11.2-q13.1 (~20-40%) For ...
  3. ... GATA1 variants in the setting of a coexisting trisomy 21 that can be difficult to distinguish from ... GATA1 variants in the setting of a coexisting trisomy 21 occurring in children older than 3 months. ...
  4. ... mongoloid) adj idiocy) or mongolism or mongoloidism or trisomy 21) or (childhood epileptic encephalopathy or lennox gastaut ... near/1 idiocy) or mongolism or mongoloidism or trisomy 21) or (“childhood epileptic encephalopathy” or “lennox gastaut” ...
  5. ... study examined the pregnancy and birth outcomes of 18 women with Parkinson’s ... reported; 1 because of the detection of trisomy 21; and 3 because of the fear of ...
  6. ... reported. chr11 Maternal UPD 1 Isodisomy, heterodisomy chr8 Trisomy 8 Chromosome duplication Most often postzygotic nondisjunction. Non-mosaic trisomy 8 is typically lethal. chr9 Trisomy 9 Chromosome ...
  7. ... 17q, and/or complex karyotypes). Other aberrations include trisomy 8, 11q23 rearrangements, trisomy 19, trisomy 21, additional Ph+ in Ph+ cells, although the ...
  8. ... language and communication in children with sex chromosome trisomies. Arch Dis Child. 2011 Oct;96(10):954– ... Al-Khair HA, Taha RZ, et al. Distal trisomy 10q syndrome, report of a patient with duplicated ...
  9. ... language and communication in children with sex chromosome trisomies. Arch Dis Child. 2011 Oct;96(10):954– ... Al-Khair HA, Taha RZ, et al. Distal trisomy 10q syndrome, report of a patient with duplicated ...
  10. ... mongoloid) adj idiocy) or mongolism or mongoloidism or trisomy 21) or (childhood epileptic encephalopathy or lennox gastaut ... near/1 idiocy) or mongolism or mongoloidism or trisomy 21) or (“childhood epileptic encephalopathy” or “lennox gastaut” ...
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