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Results 1 - 10 of 38 for Partial deletion of chromosome 8
  1. ... Genetic Testing Registry: 3p- syndrome Distal monosomy 3p Partial ... features with further definition of a critical region. Am J Med Genet A. 2013 Jun;161A(6):1405-8. doi: 10.1002/ajmg.a.35876. Epub 2013 ...
  2. ... Hale DE, Fox PT. Myelination in children with partial deletions of chromosome 18q. AJNR Am J Neuroradiol. 2005 Mar;26( ...
  3. ... chromosome mosaicism. Rarely, Turner syndrome caused by a partial deletion of the X chromosome can be passed from one generation to the ...
  4. ... 8 syndrome is caused by a rearrangement of chromosome 8 that results in a deletion of a piece of the short (p) arm ... a piece of the long (q) arm. The deletion and duplication result in the recombinant 8 chromosome. On the recombinant 8 chromosome, there is one ...
  5. ... called germline mosaicism. 17p- syndrome 17p11.2 monosomy Chromosome 17p deletion syndrome Deletion 17p syndrome Partial monosomy 17p SMS Genetic Testing Registry: Smith-Magenis ...
  6. ... Krantz ID, Spinner NB. SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation. Hum Mutat. 2009 Mar;30(3):371-8. doi: 10.1002/humu.20863. Citation on PubMed ...
  7. ... MJ, Schmitt M, Jonveaux PH, LeHeup B. Terminal deletion of the long arm of chromosome 10. Clin Genet. 2004 Apr;65(4):294-8. doi: 10.1111/j.1399-0004.2004.00218. ...
  8. ... Qumsiyeh MB, Tharapel AT, Summitt JB, Wilroy RS. Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome. J Med Genet. 1990 Aug;27(8):523-6. doi: 10.1136/jmg.27.8. ...
  9. ... and health problems characteristic of this disorder. 5p deletion syndrome 5p- syndrome Cat cry syndrome Chromosome 5p- syndrome Monosomy 5p Genetic Testing Registry: 5p partial monosomy syndrome Monosomy 5p National Organization for Rare ...
  10. ... a segment of chromosome 14 in every cell (partial trisomy 14), an extra copy of the entire chromosome in only some of the body's cells (mosaic trisomy 14), and deletions or duplications of part of chromosome 14. Full ...
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