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7 results
  1. 22q11.2 Deletion Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1523
    ... on selection criteria, click here . International 22q11.2 Deletion Syndrome Foundation, Inc. P.O. Box 2269 Cinnaminson NJ 08077 Phone: 877-739-1849 (toll-free) Email: info@22q.org www.22q.org Max Appeal 15 Meridian ...
  2. Emanuel Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1263
    ... 22 and a FISH probe for the 11q telomere can confirm that the translocation is between 11q and 22q. ... in own window Method Chromosome Abnormality Detected ...
  3. Childhood Cancer Genomics (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK374260
    ... approximately 50%) of developing Wilms tumor.[ 27 ] WAGR syndrome results from deletions at chromosome 11p13 that involve a set of ... FH tumors.[ 31 ] The intellectual disability in WAGR syndrome may be secondary to deletion of other genes, including SLC1A2 or BDNF .[ 32 ] ...
  4. Primary Familial Brain Calcification - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1421
    ... Balint B, Bhatia KP. Deconstructing Fahr's disease/syndrome of brain calcification in the era ... in familial basal ganglia calcification with dystonia. Neurogenetics. ...