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

[Partial trisomy of chromosome 15 with new phenotypic manifestations].

Medicina - 1 Jan 1994

Mar González J, Llaurado Robles R A, Cabrera Rivas T, Lantigua Cruz A, Rodríguez Verdecia B

Abstract excerpt

A patient with a 15 partial trisomy and a 4 target chromosome in 100% of metaphases is presented. Phenotypic manifestations not previously described were observed such as macrocephally, long face, low implantation of ears, narrow forehead, epicanthal fold, copious eyebrows and synophrys, short nasolabial distance, convergent strabismus, delayed bucal eruption, long neck, hypertrophy of thenar and hypothenar...

Topics

Child
Chromosomes, Human, Pair 15
Chromosomes, Human, Pair 4
Female
Humans
Phenotype
Translocation, Genetic
Trisomy

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 7997134

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7997134-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Partial trisomy of chromosome 15 with new phenotypic manifestations].PMID 7997134Read ↗

[4p trisomy secondary to paternal translocation t(4p-;15q+)].Semantic proximity Read ↗

[Familial chromosome translocation (1;5;15) as a cause of partial trisomy 1p].Semantic proximity Read ↗

Structural chromosomal mosaicism and prenatal diagnosisSemantic proximity Read ↗

Ring chromosome 15: expanding the phenotype.Semantic proximity Read ↗

[Trisomy of the short arm of chromosome 10p; description of a female patient with de novo duplication 10p11.2-15].Semantic proximity Read ↗

[Trisomy of the distal 15q region due to familial balanced translocation t(15;16)(q24;p13) and unusual mosaicism in the mother of the proband].Semantic proximity Read ↗

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

A specific phenotype associated with trisomy 15 mosaicism.Semantic proximity Read ↗

Partial mosaic trisomy 5: a new case report with ocular involvement.Semantic proximity Read ↗

Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature.Semantic proximity Read ↗

[A case of partial 6q trisomy diagnosed at birth].Semantic proximity Read ↗

Trisomy 14 mosaicism: clinical and cytogenetic findings in an adult.Semantic proximity Read ↗

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