Clinical and molecular analysis of five inv dup(15) patients.

doi:10.1159/000472386

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Article

Clinical and molecular analysis of five inv dup(15) patients.

European journal of human genetics : EJHG - 1 Jan 1993

Robinson W P, Binkert F, Giné R, Vazquez C, Müller W, Rosenkranz W, Schinzel A

Abstract excerpt

Five patients with inv dup(15) chromosomes were investigated with molecular probes on proximal 15q to determine the parental origin and extent of the duplicated segment. Cytogenetic investigation showed that four patients carried one and a fifth patient had two extra chromosomes derived from numb...

Topics

Abnormalities, Multiple
Alleles
Aneuploidy
Chromosome Aberrations
Chromosome Disorders
Chromosome Inversion
Chromosomes, Human, Pair 15
Epilepsy
Female
Humans
In Situ Hybridization
Infant
Infant, Newborn
Intellectual Disability
Karyotyping
Male
Mosaicism
Mothers

Source

Open in PubMed

Identifiers

PMID: 8069650
DOI: 10.1159/000472386

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8069650-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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