De novo tandem duplication 9p (p12----p24) with normal GALT activity in red cells.
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.
Motegi
T
T
Watanabe
K
K
Nakamura
N
N
Hasegawa
T
T
Yanagawa
Y
Y
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*
D009713:Nucleotidyltransferases; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase