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

Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: a cause of minute terminal chromosomal imbalances.

American journal of medical genetics. Part A - 15 Feb 2003

Daniel Art, Baker Elizabeth, Chia Nicole, Haan Eric, Malafiej Paul, Hinton Lyn, Clarke Nigel, Adès Lesley, Darmanian Artur, Callen David

Abstract excerpt

Two cases of submicroscopic recombinants of intrachromosomal transposition of telomeres, one each from chromosome 1 and 2 are described. Meiotic crossing-over would generate the recombinants from these reciprocal rearrangements. In both cases, which were detected by FISH with subtelomeric probes, there is a minute deletion of the qter region and a second presence of the pter subtelomeric region on the respective...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Chromosome Aberrations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Banding

Share to Chromosomes, Human, Pair 1

Share to Chromosomes, Human, Pair 2

Share to In Situ Hybridization, Fluorescence

Share to Telomere

Share to Translocation, Genetic

Source

Identifiers

PMID: 12548741
DOI: 10.1002/ajmg.a.10048

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

Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: a cause of minute terminal chromosomal imbalances.PMID 12548741Read ↗

Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q.Semantic proximity Read ↗

Two mosaic terminal inverted duplications arising post-zygotically: Evidence for possible formation of neo-telomeresSemantic proximity Read ↗

Apparent transmission distortion of a pericentric chromosome one inversion in a large multi‐generation pedigreeSemantic proximity Read ↗

Recombinant Chromosomes Resulting From Parental Pericentric Inversions—Two New Cases and a Review of the LiteratureSemantic proximity Read ↗

Two familial intrachromosomal insertions with maternal dup(6)(p22.3p25.3) or dup(2)(q24.2q32.1) in recombinant offspringSemantic proximity Read ↗

Vertical inheritance and unique differential phenotypes of reciprocal recombinant chromosome 18 within a multi-generation family.Semantic proximity Read ↗

Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4.Semantic proximity Read ↗

Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences.Semantic proximity Read ↗

Jumping translocation in a phenotypically normal female.Semantic proximity Read ↗

Three unrelated cases of paracentric inversions of 1p in individuals with abnormal phenotypes.Semantic proximity Read ↗

Pericentric inversion of chromosome 4 giving rise to dup(4p) and dup(4q) recombinants within a single kindredSemantic proximity Read ↗

Two sibs with duplication of 4q31-->qter due to 3:1 meiotic disjunction and mild phenotype.Semantic proximity Read ↗

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