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Results 1 - 10 of 19 for Chromosome inversion disorder
  1. ... in each cell is sufficient to cause the disorder.Most people with recombinant 8 syndrome have one parent with a change in chromosome 8 called an inversion. An inversion involves the breakage of a chromosome ...
  2. ... is unaffected, has a chromosomal change called an inversion in the region of ... to cause the disorder. In a small percentage of cases, people with ...
  3. ... syndrome (MLS): a male with a mosaic paracentric inversion of Xp. Cytogenet Genome Res. 2002;99(1-4):297-302. doi: 10.1159/000071607. Citation on PubMed Lyon MF. X-chromosome inactivation and human genetic disease. Acta Paediatr Suppl. 2002;91(439):107-12. ...
  4. ... duplication of the genetic material. Dup15q syndrome Duplication/inversion 15q11 ... CHROMOSOME 15q11-q13 DUPLICATION SYNDROME ...
  5. ... an extremely small percentage of parents with the inversion have a child affected by Koolen-de Vries syndrome. ... KOOLEN-DE VRIES SYNDROME; KDVS ...
  6. ... on PubMed Gilbert F. Disease genes and chromosomes: disease maps ... inherited from a paternal inversion (20)(p13q13.1): clinical report and review of ...
  7. ... additional abnormalities seen in some infants with this disorder. Like FOXF1, ... these rearrangements is an inversion of a region of chromosome 16 (written as ...
  8. Chromosome Abnormalities From the National Institutes of Health (National Human Genome Research Institute)  
    Genetic Disorders/Reference Desk ... Genetic Disorders ... National Human Genome Research Institute ... From the National Institutes of Health ... Chromosome abnormalities ...
  9. ... Human Map View Gilbert F. Disease genes and chromosomes: disease maps of the human genome. Chromosome 17. Genet ... JA, Brunner HG, de Vries BB. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet. 2006 Sep;38(9):999- ...
  10. ... and an inversion of a segment of the chromosome. An inversion involves the breakage of a chromosome in two ... of DNA is reversed and reinserted into the chromosome. People with inversion duplication 8p typically have severe intellectual disability, a ...
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