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

Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report.

European journal of medical genetics - 1 Jan 2000

Kosztolányi G, Brecevic L, Bajnòczky K, Schinzel A, Riegel M

Abstract excerpt

Additional small ring chromosome 1 is described with increasing rate of mosaicism in three generations. Ten years after the first examination, the mosaic rates in the patients were strikingly similar. An increase in the expression of phenotypic anomalies was also observed in the successive generations. FISH examinations following microdissection revealed signals which were positive for 1p13 and 1q21 indicating...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 1
Share to Comparative Genomic Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family

Share to Follow-Up Studies

Share to In Situ Hybridization, Fluorescence

Share to Mitosis

Share to Mosaicism

Share to Ring Chromosomes

Source

Identifiers

PMID: 21145991
DOI: 10.1016/j.ejmg.2010.11.015

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report.PMID 21145991Read ↗

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

Molecular cytogenetic characterization of a de novo mosaic supernumerary ring chromosome 7: report of a new patient.Semantic proximity Read ↗

Continuing role for classical cytogenetics: Case report of a boy with ring syndrome caused by complete ring chromosome 4 and review of literature.Semantic proximity Read ↗

Live-born autosomal ring chromosomes at the Johns Hopkins Hospital Cytogenomics Laboratory: Case series-Spanning 52 years of experience in a single center.Semantic proximity Read ↗

Characterization of Constitutional Ring Chromosomes over 37 Years of Experience at a Single-Site InstitutionSemantic proximity Read ↗

Mosaic trisomy of a small r(1) with an abnormal phenotype.Semantic proximity Read ↗

Ring chromosome 21 and reproductive pattern: a familial case and review of the literature.Semantic proximity Read ↗

FISH characterization of a supernumerary r(1)(::cen-->q22::q22-->sq21::) chromosome associated with multiple anomalies and bilateral cataracts.Semantic proximity Read ↗

[Progress in research and prenatal diagnosis for ring chromosomes].Semantic proximity Read ↗

Mosaic tetrasomy 14pterq13.1: longitudinal study.Semantic proximity Read ↗

Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients.Semantic proximity Read ↗

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

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