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Results 1 - 10 of 24 for Cases
  1. ... Abnormalities of chromosome 7 are responsible for some cases of Greig cephalopolysyndactyly syndrome, a disorder that affects ... many tissues and organs before birth.In some cases, Greig cephalopolysyndactyly syndrome results from a rearrangement (translocation) ...
  2. ... the duplicated segment.In about 20 percent of cases of dup15q syndrome, the duplication occurs on the ... situation is called an interstitial duplication. In these cases, cells have two copies of chromosome 15, one ...
  3. ... active, or "turned on," in cells. In some cases, however, only one of the two copies is ... 6q24 region can occur. About 40 percent of cases of 6q24-related transient neonatal diabetes mellitus are ...
  4. ... of Beckwith-Wiedemann syndrome.About 20 percent of cases of Beckwith-Wiedemann syndrome are caused by a ... are present only in certain cells. In some cases, translocations of genetic material between chromosome 11 and ...
  5. ... contains more than 25 genes, and in many cases little is known about their function. Researchers are ... are associated with 5 to 8 percent of cases of AML in adults. These mutations are acquired ...
  6. ... with 1q21.1 microdeletions (described above). In other cases, individuals have a shorter or longer duplicated segment ... region of chromosome 1 is involved in most cases of thrombocytopenia-absent radius (TAR) syndrome. TAR syndrome ...
  7. ... More About This Health Condition In a few cases, abnormalities in chromosome 5 have been associated with ... near the center of the brain. In each case, the affected individual had extra genetic material caused ...
  8. ... hearing loss. More About This Health Condition Some cases of cyclic vomiting syndrome, particularly those that begin ... gene causes more than 80 percent of all cases of MELAS. This mutation, written as A3243G, replaces ...
  9. ... above), including mild intellectual disability and, in some cases, rapid (accelerated) growth. People with this type of ... trisomy 4 is very rare; only a few cases have been reported.Other changes in the number ...
  10. ... p12 that includes the PMP22 gene causes most cases of a disorder called Charcot-Marie-Tooth disease. ... DNA, which includes the region deleted in most cases of Koolen-de Vries syndrome, has undergone an ...
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