Mosaicism for del(17)(p11.2p11.2) Underlying the Smith-Magenis syndrome

Ramesh C. Juyal, Akira Kuwano, Ikuko Kondo, Federico Zara, Antonio Baldini, Pragna I. Patel

Research output: Contribution to journalArticlepeer-review


Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome associated with deletion of band p11.2 of chromosome 17. The deletion is typically detected by high-resolution cytogenetic analysis of chromosomes from peripheral lymphocytes. Fluorescence in situ hybridization (FISH) has been previously used to rule out apparent mosaicism for del(17)(p11.2p11.2) indicated by routine cytogenetics. We now report mosaicism for del(17)(p11.2p11.2) in a child with SMS. The mosaicism had gone undetected during previous routine cytogenetic analysis. FISH analysis of peripheral lymphocytes as well as immortalized lymphoblasts using markers from 17p11.2 revealed that approximately 60% of cells carried the deletion. To our knowledge, this is the first case of SMS associated with mosaicism for del(17)(p11.2p11.2).

Original languageEnglish
Pages (from-to)193-196
Number of pages4
JournalAmerican Journal of Medical Genetics
Issue number2
Publication statusPublished - Dec 11 1996


  • chromosome17p11.2
  • del(17)(p11.2p11.2)
  • FISH
  • mosaicism
  • Smith-Magenis syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology


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