title: 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.
mesh_terms: D000015:Abnormalities, Multiple / Q000201:enzymology / Q000235:genetics; D000263:Adenylate Kinase / Q000235:genetics*; D000328:Adult; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D002904:Chromosomes, Human, 21-22 and Y; D002906:Chromosomes, Human, 6-12 and X; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D010770:Phosphotransferases / Q000235:genetics*; D014314:Trisomy
chemical_list: D010770:Phosphotransferases; D000263:Adenylate Kinase