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Pericentric inversion, inv(9) (p22 q32), in the father of a child with a duplication-deletion of chromosome 9 and gene dosage effect for adenylate kinase-1.

Abstract
A pericentric inversion of chromosome 9 was detected in the father of a child with partial trisomy involving the long arms and partial monosomy of the short arms of chromosome 9. A gene dosage effect was demonstrated for adenylate kinase 1 in erythrocytes.
AuthorsJ F Mattei, M G Mattei, J P Ardissone, H Taramasco, F Giraud
JournalClinical genetics (Clin Genet) Vol. 17 Issue 2 Pg. 129-36 (Feb 1980) ISSN: 0009-9163 [Print] Denmark
PMID6244909 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Phosphotransferases
  • Adenylate Kinase
Topics
  • Abnormalities, Multiple (enzymology, genetics)
  • Adenylate Kinase (genetics)
  • Adult
  • Chromosome Deletion
  • Chromosome Inversion
  • Chromosome Mapping
  • Chromosomes, Human, 21-22 and Y
  • Chromosomes, Human, 6-12 and X
  • Erythrocytes (enzymology)
  • Female
  • Humans
  • Infant
  • Male
  • Pedigree
  • Phosphotransferases (genetics)
  • Trisomy

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