title: De novo tandem duplication 9p (p12----p24) with normal GALT activity in red cells.
abstract: A 3 month old boy with a tandem duplication 9p (p12----p24) is reported. Both clinical and dermatoglyphic features were consistent with those of the trisomy 9p syndrome. However, the red cell galactose-1-P uridyl transferase (GALT) activity was normal despite the presence of the duplicated segment 9p13.
authors.forename: T
authors.initials: T
authors.lastname: Motegi
authors.forename: K
authors.initials: K
authors.lastname: Watanabe
authors.forename: N
authors.initials: N
authors.lastname: Nakamura
authors.forename: T
authors.initials: T
authors.lastname: Hasegawa
authors.forename: Y
authors.initials: Y
authors.lastname: Yanagawa
mesh_terms: D000015:Abnormalities, Multiple / Q000201:enzymology / Q000235:genetics*; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002906:Chromosomes, Human, 6-12 and X; D003878:Dermatoglyphics; D004912:Erythrocytes / Q000201:enzymology*; D006801:Humans; D007223:Infant; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D009713:Nucleotidyltransferases / Q000097:blood*; D013577:Syndrome; D014314:Trisomy; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000097:blood*
chemical_list: D009713:Nucleotidyltransferases; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase