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

Further contribution to the description of phenotypes associated with partial 4q duplication.

American journal of medical genetics - 22 May 1995

Zollino M, Zampino G, Torrioli G, Pomponi M G, Neri G

Abstract excerpt

We report on a 15-year-old girl with a previously undescribed de novo duplication of segment 4q13.1-->q22.2. The origin of the extrachromosomal material on 4q was unequivocally established by fluorescent in situ hybridization with a chromosome 4 painting probe. Clinical manifestations included moderate mental retardation, destructive behavior, and minor physical anomalies. An analysis of the literature on partial...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Adolescent
Share to Chromosome Mapping

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

Share to Chromosomes, Human, Pair 4

Share to In Situ Hybridization, Fluorescence

Share to Karyotyping

Share to Phenotype

Share to Trisomy

Source

Identifiers

PMID: 7645603
DOI: 10.1002/ajmg.1320570116

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

Further contribution to the description of phenotypes associated with partial 4q duplication.PMID 7645603Read ↗

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

Partial trisomy of long arm of chromosome 4 as a result of dir dup (4)(q27q31.3) de novo.Semantic proximity Read ↗

A boy with partial trisomy of chromosome 3q24-q28 from paternal balanced insertion and multiple congenital anomalies.Semantic proximity Read ↗

"Essentially" pure trisomy 3q27 --> qter: further delineation of the partial trisomy 3q phenotype.Semantic proximity Read ↗

Cytogenetic and molecular characterization of a de novo 4q24qter duplication and correlation to the associated phenotype.Semantic proximity Read ↗

First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization.Semantic proximity Read ↗

Novel ocular findings with 5p deletion and partial trisomy of distal 4q.Semantic proximity Read ↗

De novo case of a partial trisomy 4p and a partial monosomy 8p.Semantic proximity Read ↗

A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): further delineation of chromosome 14 interstitial deletion syndrome.Semantic proximity Read ↗

A distinct phenotype associated with partial trisomy 10q due to proximal direct duplication 10q11 --> q223?Semantic proximity Read ↗

Partial 3q duplication syndrome and assignment of D3S5 to 3q25-3q28.Semantic proximity Read ↗

Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation.Semantic proximity Read ↗

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