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

Chromosome abnormalities without phenotypic consequences.

Journal of applied genetics - 1 Jan 2007

Kowalczyk Małgorzata, Srebniak Małgorzata, Tomaszewska Agnieszka

Abstract excerpt

Some changes in chromosome morphology, detected during cytogenetic analysis, are not associated with clinical defects. Therefore a proper discrimination of harmless variants from true abnormalities, especially during prenatal diagnosis, is crucial to allow precise counseling. In this review we described chromosome variants and examples of chromosome anomalies that are considered to be unrelated to phenotypic...

Read the complete abstract on PubMed

Topics

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

Share to Aneuploidy
Share to Chromosome Deletion
Share to Chromosome Fragile Sites

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Euchromatin

Share to Gene Rearrangement

Share to Heterochromatin

Share to Karyotyping

Share to Nucleolus Organizer Region

Source

Identifiers

PMID: 17495350
DOI: 10.1007/BF03194674

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Chromosome abnormalities without phenotypic consequences.PMID 17495350Read ↗

Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.Semantic proximity Read ↗

Cytogenetic contribution to uniparental disomy (UPD)Semantic proximity Read ↗

Five cases of supernumerary small ring chromosomes 1: heterogeneity and genotype-phenotype correlation.Semantic proximity Read ↗

Cytogenetically visible copy number variations (CG-CNVs) in banding and molecular cytogenetics of human; about heteromorphisms and euchromatic variantsSemantic proximity Read ↗

Molecular Cytogenetic Diagnosis and Somatic Genome VariationsSemantic proximity Read ↗

Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.Semantic proximity Read ↗

Small supernumerary marker chromosomes 1 with a normal phenotype.Semantic proximity Read ↗

Complete Trisomy 9 with unusual phenotypic associations.Semantic proximity Read ↗

10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences.Semantic proximity Read ↗

Uniparental disomy is a chromosomic disorder in the first placeSemantic proximity Read ↗

Chromosomes and clinical anatomy.Semantic proximity Read ↗

Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: characterization and evaluation of the aberrations.Semantic proximity Read ↗

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