Inv dup (8) (p21.1----22.1): further case report and a new hypothesis on the origin of the chromosome abnormality

M Gorinati; D Caufin; A Minelli; L Memo; G Gaspardo; A Dodero

doi:10.1111/j.1399-0004.1991.tb02985.x

Inv dup (8) (p21.1----22.1): further case report and a new hypothesis on the origin of the chromosome abnormality

Clin Genet. 1991 Jan;39(1):55-9. doi: 10.1111/j.1399-0004.1991.tb02985.x.

Authors

M Gorinati¹, D Caufin, A Minelli, L Memo, G Gaspardo, A Dodero

Affiliation

¹ Pediatrics Department, General Hospital, Conegliano, Italy.

PMID: 1997216
DOI: 10.1111/j.1399-0004.1991.tb02985.x

Abstract

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.

Publication types

Case Reports

MeSH terms

Chromosome Aberrations / genetics*
Chromosome Banding
Chromosome Deletion
Chromosome Disorders
Chromosomes, Human, Pair 8*
Glutathione Reductase / blood
Humans
Infant, Newborn
Male
Mutation
Trisomy*

Substances

Glutathione Reductase