Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome

R. Tupler, A. Hoeller, A. Pezzolo, P. Maraschio

Research output: Contribution to journalArticle

Abstract

Cytogenetic analysis in a male child with dismorphies and renal anomalies showed an extra bisatellited chromosome. In situ hybridization and an analysis of cytogenetic polymorphisms revealed that the abnormal chromosome derived from a single maternal chromosome 22.

Original languageEnglish
Pages (from-to)153-155
Number of pages3
JournalAnnales de Genetique
Volume37
Issue number3
Publication statusPublished - 1994

Keywords

  • cat-eye syndrome
  • imprinting effect
  • inv dup (22)
  • maternal origin

ASJC Scopus subject areas

  • Genetics

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