Inv dup (8) (p21.1----22.1): further case report and a new hypothesis on the origin of the chromosome abnormality.
We report a male infant with a de novo inverted duplication of bands 8p 21.1----22.1. The clinical features up to 8 months of age and the enzyme investigations are described. A new cytogenetic hypothesis on the genesis of this rare chromosome aberration is also discussed.
Gorinati
M
M
Pediatrics Department, General Hospital, Conegliano, Italy.
Caufin
D
D
Minelli
A
A
Memo
L
L
Gaspardo
G
G
Dodero
A
A
D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002898:Chromosomes, Human, Pair 8; D005980:Glutathione Reductase / Q000097:blood; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D014314:Trisomy
D005980:Glutathione Reductase