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20 results
  1. Potocki-Lupski Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK447920
    ... known to be at increased risk for the 17p11.2 duplication . Prenatal testing and preimplantation genetic diagnosis using ... known to be at increased risk for the 17p11.2 duplication . CMA performed in a pregnancy not known ...
  2. Potocki-Lupski syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome
    ... p11.2. This condition is also known as 17p11.2 duplication syndrome. Infants with Potocki-Lupski syndrome may ... results from a duplication of genetic material at 17p11.2. In about two-thirds of affected individuals, the ...
  3. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... p11.2. This condition is also known as 17p11.2 duplication syndrome.</html:p><html:p >Infants with ... related-chromosome></related-gene-list><synonym-list ><synonym >17p11.2 duplication syndrome</synonym><synonym >17p11.2 microduplication syndrome</ ...
  4. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... Potocki-Lupski syndrome</title><other_names ><other_name >17p11.2 duplication syndrome</other_name><other_name >17p11.2 microduplication syndrome</other_name><other_name >Chromosome 17p11. ...
  5. Genetics of Kidney Cancer (Renal Cell Cancer) (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK169222
    ... Hogg-Dubé syndrome (BHD) (AD) [ 7 - 10 ] FLCN 17p11.2, tumor suppressor (folliculin) Hybrid oncocytic, chromophobe, oncocytoma, papillary, ... suppressor gene , comprises 14 exons located at chromosome 17p11.2.[ 2 ] In BHD patients, FLCN pathogenic variants have ...
  6. RAI1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/rai1
    ... cell. Most often, this chromosome segment, located at 17p11.2, is the same one that is duplicated in ... RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. J Med Genet. 2005 Nov;42(11): ...
  7. Smith-Magenis syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/smith-magenis-syndrome
    ... mosaicism. Other Names for This Condition 17p- syndrome 17p11.2 monosomy Chromosome 17p deletion syndrome Deletion 17p syndrome ... RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. J Med Genet. 2005 Nov;42(11): ...
  8. Genetic Conditions: 0-9 
    https://medlineplus.gov/genetics/condition-0
    ... 3 deficiency 17p- syndrome, see Smith-Magenis syndrome 17p11.2 duplication syndrome, see Potocki-Lupski syndrome 17p11.2 microduplication syndrome, see Potocki-Lupski syndrome 17p11.2 ...
  9. WAC-Related Intellectual Disability - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK465012
    ... 3 Deletion or mutation of RAI1 on chromosome 17p11.2 4 Virtually all de novo Neonatal hypotonia w/ ... the disorder as a result of an interstitial 17p11.2 deletion , which may have been previously excluded by ...
  10. Yuan-Harel-Lupski syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/yuan-harel-lupski-syndrome
    ... of the chromosome in a region designated 17p12-17p11.2. The duplicated segment ranges in size from approximately ... a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients. Am J Med Genet A. ...
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