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Article

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

Clinical genetics - 1 Jan 1991

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

Abstract excerpt

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.

Topics

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1997216-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Inv dup (8) (p21.1----22.1): further case report and a new hypothesis on the origin of the chromosome abnormality.PMID 1997216Read ↗

Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature.Semantic proximity Read ↗

Direct duplication of 8p21.3-->p23.1: a cytogenetic anomaly associated with developmental delay without consistent clinical features.Semantic proximity Read ↗

<i>De novo</i> direct duplication 2 (p12 p21) with paternally inherited pericentric inversion 2p11.2 2q12.2Semantic proximity Read ↗

De novo duplication of 12pter-->p12.1: clinical and cytogenetic diagnosis confirmed by chromosome painting.Semantic proximity Read ↗

Pericentric inversion inv(7)(p11q21.1): report on two cases and genotype-phenotype correlations.Semantic proximity Read ↗

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