Mosaic trisomy 7 in a patient with pigmentary abnormalities

S. Verghese*, A. Newlin, M. Miller, B. K. Burton

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

33 Scopus citations

Abstract

Somatic chromosomal mosaicism may present as isolated pigmentary abnormalities or multiple congenital anomalies with mental retardation. Pigmentary lesions are visually dramatic and are differentiated based on appearance when the underlying pathogenesis is not known. It is now clear that mosaicism is responsible for the pigmentary findings in hypomelanosis of Ito (HI) and linear and whorled nevoid hypermelanosis (LWH). Both hypopigmentation and hyperpigmentation have been noted in the same individual, and both LWH and HI can be caused by similar chromosomal abnormalities. Both of these conditions exhibit similar systemic involvement. We present a case of LWH associated with mosaic trisomy 7 and review the relevant literature.

Original languageEnglish (US)
Pages (from-to)371-374
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume87
Issue number5
DOIs
StatePublished - 1999

Keywords

  • Hypomelanosis of Ito
  • Linear and whorled nevoid hypermelanosis
  • Mosaicism
  • Pigmentary disorders
  • Trisomy 7

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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