Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.

doi:10.1111/cge.14096

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Article

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.

Clinical genetics - 1 Mar 2022

Vibert Roseline, Mignot Cyril, Keren Boris, Chantot-Bastaraud Sandra, Portnoï Marie-France, Nouguès Marie-Christine, Moutard Marie-Laure, Faudet Anne, Whalen Sandra, Haye Damien, Garel Catherine, Chatron Nicolas, Rossi Massimiliano, Vincent-Delorme Catherine, Boute Odile, Delobel Bruno, Andrieux Joris, Devillard Françoise, Coutton Charles, Puechberty Jacques, Pebrel-Richard Céline, Colson Cindy, Gerard Marion, Missirian Chantal, Sigaudy Sabine, Busa Tiffany, Doco-Fenzy Martine, Malan Valérie, Rio Marlène, Doray Bérénice, Sanlaville Damien, Siffroi Jean-Pierre, Héron Delphine, Heide Solveig

Abstract excerpt

Inverted duplication deletion 8p [invdupdel(8p)] is a complex and rare chromosomal rearrangement that combines a distal deletion and an inverted interstitial duplication of the short arm of chromosome 8. Carrier patients usually have developmental delay and intellectual disability (ID), associated with various cerebral and extra-cerebral malformations. Invdupdel(8p) is the most common recurrent chromosomal...

Topics

Chromosome Deletion
Chromosome Inversion
Chromosomes, Human, Pair 8
Corpus Callosum
Genetic Association Studies
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Intellectual Disability

Leukoencephalopathies

Phenotype

Trisomy

Source

Open in PubMed

Identifiers

PMID: 34866188
DOI: 10.1111/cge.14096

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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