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

Duplication 20p identified via fluorescent in situ hybridization.

American journal of medical genetics - 1 Apr 1994

LeChien K A, McPherson E, Estop A M

Abstract excerpt

A 3-year-old girl is reported with dup (20p) resulting from 3:1 segregation of a de novo t(20;21). The proposita presented with minor anomalies, developmental delay, a clinical phenotype suggestive of 20p trisomy, and a karyotype with a 21p+ and an additional small marker chromosome. Conventional cytogenetic techniques were not informative for the identification of the origin of the extra material of chromosome...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Chromosome Banding
Share to Chromosomes, Human, Pair 20

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

Share to Chromosomes, Human, Pair 21

Share to In Situ Hybridization, Fluorescence

Share to Karyotyping

Share to Multigene Family

Share to Phenotype

Source

Identifiers

PMID: 7516625
DOI: 10.1002/ajmg.1320500210

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

Duplication 20p identified via fluorescent in situ hybridization.PMID 7516625Read ↗

Mosaic dup (9p) diagnosed by fluorescence in situ hybridization (FISH).Semantic proximity Read ↗

Molecular cytogenetic characterization of an inherited maternal duplication 20p11.21p13 associated with a small 20p11.21 deletion.Semantic proximity Read ↗

20 p duplication as a result of parental translocation: familial case report and a contribution to the clinical delineation of the syndrome.Semantic proximity Read ↗

The smallest de novo deletion of 20q11.21-q11.23 in a girl with feeding problems, retinal dysplasia, and skeletal abnormalities.Semantic proximity Read ↗

Ring 20 syndrome mosaicism and epilepsy: a case with duplication of two BAC clones in 20q11.21-q11.22 defined by genome array-CGH.Semantic proximity Read ↗

Trisomy 20q caused by interstitial duplication 20q13.2: Clinical report and literature reviewSemantic proximity Read ↗

Direct duplication of 8p21.3-->p23.1: a cytogenetic anomaly associated with developmental delay without consistent clinical features.Semantic proximity Read ↗

Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studiesSemantic proximity Read ↗

Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).Semantic proximity Read ↗

Duplication of 20qter and deletion of 20pter due to paternal pericentric inversion: patient report and review of 20qter duplications.Semantic proximity Read ↗

Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20.Semantic proximity Read ↗

Intersitial deletion of 20p: new candidate region for Hirschsprung disease and autism?Semantic proximity Read ↗

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