Skip to main content
U.S. flag

An official website of the United States government

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Search help

5 results

  1. Educational Materials — Genetic Testing: Current Approaches - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK279899
    ... 638 PMP22 Charcot-Marie-Tooth neuropathy type 1A (17p12 duplication; OMIM 118220 ) Smith-Magenis syndrome (17p11.2 deletion) 3.7 Mb ISCA-37418 GRCh38/hg38 ...
  2. Potocki-Lupski Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK447920
    ... that encompass both the PTLS critical region at 17p11.2 and the neighboring CMT1A critical region at 17p12, thereby leading to Yuan-Harel-Lupski (YUHAL) syndrome ( ...
  3. Yuan-Harel-Lupski syndrome 
    https://medlineplus.gov/.../condition/yuan-harel-lupski-syndrome
    ... arm of the chromosome in a region designated 17p12-17p11.2. The duplicated segment ranges in size from approximately ...
  4. Smith-Magenis Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1310
    ... considered in individuals with larger deletions extending into 17p12. Treatment of Manifestations The following are appropriate. Table ...
  5. Hereditary Neuropathy with Liability to Pressure Palsies - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1392
    ... Locus Protein Locus-Specific Databases HGMD ClinVar PMP22 17p12 Peripheral myelin protein 22 IPN Mutations, PMP22 PMP22 ... recurrent 1.5-Mb submicroscopic DNA deletion at 17p11.2 that includes PMP22 . This is the reciprocal of ...