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Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome.

AuthorsM Meins, P Burfeind, S Motsch, R Trappe, D Bartmus, S Langer, M R Speicher, H Mühlendyck, I Bartels, B Zoll
JournalJournal of medical genetics (J Med Genet) Vol. 40 Issue 5 Pg. e62 (May 2003) ISSN: 1468-6244 [Electronic] England
PMID12746416 (Publication Type: Case Reports, Letter, Review)
Topics
  • Abnormalities, Multiple (genetics, pathology)
  • Chromosomes, Human, Pair 22 (genetics)
  • Eye Abnormalities (genetics, pathology)
  • Gene Duplication
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Phenotype
  • Syndrome
  • Trisomy (genetics)

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