Chromosome mosaicism in hypomelanosis of Ito

C. L. Ritter, M. W. Steele, S. L. Wenger, B. A. Cohen

Research output: Contribution to journalArticlepeer-review

67 Scopus citations


Our finding of chromosome mosaicism with a ring 22 in a retarded black boy with hypomelanosis of Ito prompted a review of this 'syndrome'. Most patients have a variety of non-dermal defects, particularly those affecting CNS function. Among karyotyped patients, most are chromosome mosaics of one sort or another. Hypomelanosis of Ito turns out to be a causable non-specific phenotype, i.e., a clinical marker for chromosome mosaicism of all different types in individuals with a dark enough skin to show lighter patches. Consequently, cytogenetic evaluation is indicated in all patients with this skin finding.

Original languageEnglish (US)
Pages (from-to)14-17
Number of pages4
JournalAmerican journal of medical genetics
Issue number1
StatePublished - 1990
Externally publishedYes


  • Cytogenetic clinical marker
  • Incontinentia pigmenti achromians
  • Ring chromosome 22

ASJC Scopus subject areas

  • Genetics(clinical)


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