Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.

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Article

Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.

American journal of human genetics - 1 Oct 1994

Cheng S D, Spinner N B, Zackai E H, Knoll J H

Abstract excerpt

We have studied the inverted duplicated chromosomes 15 (inv dup(15)) from 11 individuals--7 with severe mental retardation and seizures, 3 with a normal phenotype, and 1 with Prader-Willi syndrome (PWS). Through a combination of FISH and quantitative DNA analyses, three different molecular sizes...

Topics

Adolescent
Adult
Blotting, Southern
Child
Child, Preschool
Chromosome Banding
Chromosome Inversion
Chromosome Mapping
Chromosomes, Human, Pair 15
DNA
Female
Genetic Markers
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability
Karyotyping
Male
Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 7942854
PMCID: PMC1918309

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7942854-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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