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

De novo case of a partial trisomy 4p and a partial monosomy 8p.

Collegium antropologicum - 1 Mar 2014

Skrlec Ivana, Wagner Jasenka, Pubeljić Silvija, Heffer Marija, Stipoljev Feodora

Abstract excerpt

The extent of clinical expression in cases of segmental aneuploidy often varies depending on the size of the chromosomal region involved. Here we present clinical and cytogenetic findings in a 5-month old boy with a duplication of a chromosomal segment 4p16.1-->4pter and a deletion of a chromosomal segment 8p23.1-->8pter. His karyotype was determined by applying classical GTG banding and FISH method (WHCR region,...

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 4
Share to Chromosomes, Human, Pair 8

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

Share to Haplotypes

Share to In Situ Hybridization, Fluorescence

Share to Infant

Share to Phenotype

Share to Trisomy

Source

Identifiers

PMID: 24851635

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

De novo case of a partial trisomy 4p and a partial monosomy 8p.PMID 24851635Read ↗

Molecular cytogenetic analysis of de novo partial monosomy 4p (4p16.2-->pter) and partial trisomy 8p (8p23.2-->pter).Semantic proximity Read ↗

De novo balanced complex chromosome rearrangement (CCR) involving chromosome 8, 11 and 16 in a boy with mild developmental delay and psychotic disorder.Semantic proximity Read ↗

Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype.Semantic proximity Read ↗

Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype.Semantic proximity Read ↗

A Patient with Trisomy 4p and Monosomy 10qSemantic proximity Read ↗

De-novo 'pure' partial trisomy (6)(p22.3→pter): a case report and review of the literature.Semantic proximity Read ↗

A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature.Semantic proximity Read ↗

Familial trisomy 6p in mother and daughter.Semantic proximity Read ↗

Trisomy 3q25.1-qter and monosomy 8p23.1-pter in a patient: cytogenetic and molecular analysis with delineation of the phenotype.Semantic proximity Read ↗

Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature.Semantic proximity Read ↗

A patient with a duplication of chromosome 3p (p24.1p26.2): a comparison with other partial 3p trisomies.Semantic proximity Read ↗

A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome.Semantic proximity Read ↗

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