A case of omphalocele with hypotonia and psychomotor retardation

D. Erba, Luca Romano, R. Casciaro

Research output: Contribution to journalArticlepeer-review

Abstract

Pallister-Killian syndrome is a dysmorphic condition characterized by tissue-limited mosaicism; most fibroblast have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. Clinical presentation of PKS includes profound mental retardation, seizures and facial abnormalities. The mechanism and parental origin of extra chromosome i(12)(p10) are unknown.

Original languageEnglish
Pages (from-to)99-101
Number of pages3
JournalItalian Journal of Pediatrics
Volume29
Issue number2
Publication statusPublished - Apr 2003

Keywords

  • Facial abnormalities
  • Mosaicism
  • Profound mental retardation
  • Seizures

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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