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

A patient with trisomy 13 mosaicism with an unusual skin pigmentary pattern and prolonged survival.

Pediatric dermatology - 1 Jan 2000

González-del Angel Ariadna, Estandia-Ortega Bernardette, Gaviño-Vergara Alejandro, Sáez-de-Ocariz Marimar, Velasco-Hernández María de la Luz, Salas-Labadía Consuelo

Abstract excerpt

Trisomy 13, or Patau syndrome, is a chromosomal disorder that can occur in complete, partial, or mosaic forms. Mosaicism is observed in 6% of individuals with trisomy 13 and, in contrast to the complete form, has wide phenotypic variability, longer survival, and in some patients an unusual skin pigmentary pattern similar to phylloid hypomelanosis. We describe here a 12-year-old girl with trisomy 13 mosaicism (mos...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Chromosome Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 13

Share to Phenotype

Share to Trisomy

Source

Identifiers

PMID: 24846410
DOI: 10.1111/pde.12339

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A patient with trisomy 13 mosaicism with an unusual skin pigmentary pattern and prolonged survival.PMID 24846410Read ↗

Cutaneous manifestations in trisomy 13 mosaicism: A rare case and review of the literature.Semantic proximity Read ↗

Tetrasomy 13q mosaicism associated with phylloid hypomelanosis and precocious pubertySemantic proximity Read ↗

Three cases of trisomy 13 mosaicism and a review of the literatureSemantic proximity Read ↗

Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil.Semantic proximity Read ↗

Peculiar Phenotype of Linear Prepubertal Hidradenitis Suppurativa Associated With Trisomy 13: Report of Two Clinical Cases.Semantic proximity Read ↗

Phenotypic variability in trisomy 13 mosaicism: two new patients and literature review.Semantic proximity Read ↗

A case of constitutional trisomy 3 mosaicism in a teenage patient with mild phenotype.Semantic proximity Read ↗

Phylloid hypomelanosis and mosaic partial trisomy 13: two cases that provide further evidence of a distinct clinicogenetic entity.Semantic proximity Read ↗

Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event.Semantic proximity Read ↗

Phylloid hypomelanosis associated with a mosaic trisomy 13 in the 13q31.3-qter region: atypical phylloid distribution and typical hypomelanosis.Semantic proximity Read ↗

Phylloid pattern of hypomelanosis closely related to chromosomal abnormalities in the 13q detected by SNP array analysis.Semantic proximity Read ↗

Clinical features of trisomy 12 mosaicism—Report and reviewSemantic proximity Read ↗

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