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

Application of FISH and Q-PCR techniques in breakpoint diagnostics in three cases of marker chromosomes derived from chromosome 15.

Medical science monitor : international medical journal of experimental and clinical research - 1 Jan 2000

Helszer Z, Constantinou M, Nowacka J, Płucienniczak G, Płucienniczak A, Kałuzewski B

Abstract excerpt

BACKGROUND: The goal of the study was a search for effective methods of diagnosing additional marker chromosomes. MATERIAL AND METHODS: Three cases of extra structurally abnormal chromosomes (ESACs) were diagnosed, the ESACs having been derived from chromosome 15 by cytogenetic techniques, the fluorescence in situ hybridisation (FISH) technique and the quantitative--polymerase chain reaction (Q-PCR). An...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Inversion
Share to Chromosomes, Human, Pair 15

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

Share to Developmental Disabilities

Share to Gene Duplication

Share to Genetic Techniques

Share to Intellectual Disability

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 11386027

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

Application of FISH and Q-PCR techniques in breakpoint diagnostics in three cases of marker chromosomes derived from chromosome 15.PMID 11386027Read ↗

New Insights into Chromosomal Regions 15p11.2–15q11.2 by Studying Submicroscopic Variations Using Molecular CytogeneticsSemantic proximity Read ↗

Inv dup(15): contribution to the clinical definition of phenotype.Semantic proximity Read ↗

Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity.Semantic proximity Read ↗

Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.Semantic proximity Read ↗

Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15--case report plus review of similar cases.Semantic proximity Read ↗

Robust and easy-to-use STR-based method for 15q11-q13 rearrangements identificationSemantic proximity Read ↗

Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.Semantic proximity Read ↗

Unusual features in children with inv dup(15) supernumerary marker: a study of genotype-phenotype correlation in Taiwan.Semantic proximity Read ↗

Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10).Semantic proximity Read ↗

[Case reports of patients with a marker chromosome].Semantic proximity Read ↗

Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15).Semantic proximity Read ↗

A familial balanced inverted insertion ins(15)(q15q13q11.2) producing Prader–Willi syndrome, Angelman syndrome and duplication of 15q11.2‐q13 in a single family: Importance of differentiation from a paracentric inversionSemantic proximity Read ↗

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