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Results 1 - 10 of 24 for case syndrome
  1. ... from egg cells. In a small percentage of cases, Angelman syndrome is caused by a translocation or by a ... the sperm cell. In about 70 percent of cases, Prader-Willi syndrome occurs when the 15q11-q13 region in the ...
  2. ... many tissues and organs before birth.In some cases, Greig cephalopolysyndactyly syndrome results from a rearrangement (translocation) of genetic material ...
  3. ... Down syndrome.In a very small percentage of cases, Down syndrome results from an extra copy of chromosome 21 ... delayed development, and characteristic facial features. In some cases, the ... syndrome (described above).Changes involving chromosome 21 can include ...
  4. ... of Beckwith-Wiedemann syndrome.About 20 percent of cases of Beckwith-Wiedemann syndrome are caused by a genetic change known as ... CR, Wu Y, Shaffer LG, Hecht JT. Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4. Clin ...
  5. ... hearing loss. More About This Health Condition Some cases of cyclic vomiting syndrome, particularly those that begin in childhood, may be ...
  6. ... region of chromosome 1 is involved in most cases of thrombocytopenia-absent radius (TAR) syndrome. TAR syndrome is characterized by the absence of ... 1 pericentric heterochromatin (1q) in pathogenesis of myelodysplastic syndromes: report of 2 new cases. Exp Mol Pathol. 2008 Apr;84(2):189- ...
  7. ... DNA, which includes the region deleted in most cases of Koolen-de Vries syndrome, has undergone an inversion. An inversion involves two ... missing copy of this segment causes Smith-Magenis syndrome, described below.) ... one-third of cases, the duplication is larger or smaller, ranging from ...
  8. ... leukemia cells. More About This Health Condition Some cases of severe Rubinstein-Taybi syndrome (sometimes known as chromosome 16p13.3 deletion syndrome) ...
  9. ... with linear skin defects syndrome. In a few cases, individuals with microphthalmia with linear skin defects syndrome have two X chromosomes but have sex characteristics ...
  10. ... Z, Ji Y, Luo Y. Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature. Mol Med ...
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