Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy

Am J Med Genet A. 2014 Mar;164A(3):748-52. doi: 10.1002/ajmg.a.36322. Epub 2013 Dec 19.

Abstract

We report on a girl with a de novo mosaic derivative chromosome 17 involving a 7.4 Mb deletion of chromosome region 17p11.2 to 17p12 and a duplication of a 12.35 Mb region at 17q22 to 17q24. She was ascertained because of developmental delay, peripheral neuropathy, brachydactyly and minor anomalies. The derivative chromosome was present in approximately 12% of lymphocytes based on FISH studies, and was detected by array comparative genomic hybridization. To our knowledge, this is the third case of mosaicism involving deletion of the 17p11.2 region and the lowest level of mosaicism reported in a patient with Smith-Magenis syndrome (SMS).

Keywords: Smith-Magenis syndrome; developmental delay; mosaicism; peripheral neuropathy.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosome Duplication*
  • Chromosomes, Human, Pair 17*
  • Comparative Genomic Hybridization
  • Facies
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Mosaicism*
  • Peripheral Nervous System Diseases / diagnosis
  • Peripheral Nervous System Diseases / genetics*
  • Phenotype*
  • Smith-Magenis Syndrome / diagnosis
  • Smith-Magenis Syndrome / genetics*