Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardation.

European journal of medical genetics - 1 Jan 2000

Gijsbers Antoinet C J, Bijlsma Emilia K, Weiss Marjan M, Bakker Egbert, Breuning Martijn H, Hoffer Mariëtte J V, Ruivenkamp Claudia A L

Abstract excerpt

The presence of a duplication as well as a triplication in one chromosome is a rare rearrangement and not easy to distinguish with routine chromosomal analysis. Recent developments in array technologies, however, not only allow screening of the whole genome at a higher resolution, but also make it possible to characterize complex chromosomal rearrangements in more detail. Here we report a molecular cytogenetic...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 9

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytogenetic Analysis

Share to Facies

Share to Gene Duplication

Share to In Situ Hybridization, Fluorescence

Share to Intellectual Disability

Share to Karyotyping

Source

Identifiers

PMID: 18547887
DOI: 10.1016/j.ejmg.2008.04.003

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardation.PMID 18547887Read ↗

Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.Semantic proximity Read ↗

Pure subtelomeric microduplications as a cause of mental retardation.Semantic proximity Read ↗

9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?Semantic proximity Read ↗

Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism.Semantic proximity Read ↗

[A study of subtelomeric rearrangements in 300 patients with mental retardation and multiple congenital anomalies: their clinical and molecular characterisation].Semantic proximity Read ↗

First report on chromosomal abnormalities in Eastern Morocco: Identification of a new case of a de novo partial trisomy 13q using single-nucleotide polymorphism array.Semantic proximity Read ↗

Array-CGH study of partial trisomy 9p without mental retardation.Semantic proximity Read ↗

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.Semantic proximity Read ↗

A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features.Semantic proximity Read ↗

[Subtelomeric deletion 9qter: definition of the syndrome and parental origin in 2 patients].Semantic proximity Read ↗

Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics.Semantic proximity Read ↗

Fine mapping of breakpoints in two unrelated patients with rare overlapping interstitial deletions of 9q with mild dysmorphic features.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.