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Results 1 - 10 of 31 for Deletion of short arm of chromosome 18
  1. Chromosome 18 
    ... piece of the long (q) arm of chromosome 18 is missing. The term "distal" means ... short stature, weak muscle tone (hypotonia), foot abnormalities, and ...
    https://medlineplus.gov/genetics/chromosome/18 - Genetics
  2. Distal 18q deletion syndrome 
    ... occurs when a piece of the long (q) arm of chromosome 18 is missing. The term ... include short stature (often due to growth hormone deficiency), weak ...
    https://medlineplus.gov/.../condition/distal-18q-deletion-syndrome - Genetics
  3. 3p deletion syndrome 
    ... syndrome Distal monosomy 3p Partial ... three small distal deletions and review. Am J Med Genet A. 2007 Sep 15;143A(18):2143-9. doi: 10.1002/ajmg.a.31902. ...
    https://medlineplus.gov/genetics/condition/3p-deletion-syndrome - Genetics
  4. PMP22 gene 
    ... copying (duplication) of a small piece of the short (p) arm of chromosome 17 in a region designated p12-p11.2. In YUHAL ... disease phenotype. Am J Med Genet A. 2008 Sep 15;146A(18):2412-6. doi: 10.1002/ajmg.a.32456. ...
    https://medlineplus.gov/genetics/gene/pmp22 - Genetics
  5. Chromosome 14 
    ... the body's cells (mosaic trisomy 14), and deletions or duplications of part of ... ...
    https://medlineplus.gov/genetics/chromosome/14 - Genetics
  6. ALX4 gene 
    ... by a deletion of genetic material from the short (p) arm of chromosome 11. In people with this ... epidermal development. Hum Mol Genet. 2009 Nov 15;18(22):4357-66. doi: 10.1093/hmg/ddp391. ...
    https://medlineplus.gov/genetics/gene/alx4 - Genetics
  7. PURA gene 
    ... causes this condition occurs on the long (q) arm of the chromosome at a position designated q31.3. The ... Epub 2011 Oct 18. Citation on PubMed Hosoki K, Ohta T, Natsume ...
    https://medlineplus.gov/genetics/gene/pura - Genetics
  8. Chromosome 19 
    ... blocks (3 megabases or 3 Mb) on the short arm of chromosome 19. The region of the ... microdeletions. Eur J Hum Genet. 2010 Dec;18(12):1302-9. doi: 10.1038/ejhg.2010. ...
    https://medlineplus.gov/genetics/chromosome/19 - Genetics
  9. Carney complex 
    ... been associated with a specific region on the short (p) arm of chromosome 2 called 2p16. Variants in ... JA, Bertherat J, Stratakis CA. Large deletions of the PRKAR1A gene in Carney complex. Clin ...
    https://medlineplus.gov/genetics/condition/carney-complex - Genetics
  10. Chromosome 11 
    ... affected individuals. Researchers have identified genes on the short arm of chromosome ... single copy neuroblastomas. Oncogene. 1999 Sep 2;18(35):4948-57. doi: 10.1038/sj.onc. ...
    https://medlineplus.gov/genetics/chromosome/11 - Genetics
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