Xp microdeletion syndrome characterized by pathognomonic linear skin defects on the head and neck

Brent R. Paulger, Eric W. Kraus, Donald R. Pulitzer, Charleen M. Moore

Research output: Contribution to journalArticlepeer-review

20 Scopus citations

Abstract

We describe a new case of a rare syndrome characterized by ocular abnormalities and pathognomonic linear skin defects. This syndrome is the result of an unbalanced translocation resulting in a deletion of the distal end of the short arm of the X chromosome. We report the thirteenth case and review the clinical and cytogenetic aspects of this disorder. In addition we discuss new findings pertaining to the histopathology of the akin lesions.

Original languageEnglish (US)
Pages (from-to)26-30
Number of pages5
JournalPediatric Dermatology
Volume14
Issue number1
DOIs
StatePublished - Jan 1 1997

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Dermatology

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