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

Bilateral severe microphthalmia in a neonate with trisomy 8 mosaicism: A new finding.

American journal of medical genetics. Part A - 1 Feb 2021

Sanderson Bevan, Leach Courtney, Zein Mike, Islam Omar, MacLean Gillian, Strube Yi Ning J, Guerin Andrea

Abstract excerpt

Mosaic Trisomy 8 is a rare chromosomal abnormality estimated to occur one in 30,000 newborns. The phenotype is highly variable and the severity does not appear to be correlated with the proportion of cells that contain the additional chromosome. Ocular involvement in Trisomy 8 mosaicism has previously been described to include corneal opacities, retinal dystrophy, coloboma, and unilateral microphthalmia. We...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 8
Share to Coloboma

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Corneal Opacity

Share to Microphthalmos

Share to Mosaicism

Share to Retinal Dystrophies

Share to Trisomy

Share to Uniparental Disomy

Source

Identifiers

PMID: 33179440
DOI: 10.1002/ajmg.a.61955

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Bilateral severe microphthalmia in a neonate with trisomy 8 mosaicism: A new finding.PMID 33179440Read ↗

Ocular manifestations of trisomy 8 mosaicim: a rare case report.Semantic proximity Read ↗

Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32.Semantic proximity Read ↗

Genetic Advances in MicrophthalmiaSemantic proximity Read ↗

Ophthalmologic observations in a patient with partial mosaic trisomy 8.Semantic proximity Read ↗

Atypical presentation of Cat Eye Syndrome in an infant with Peters anomaly and microphthalmia with cyst.Semantic proximity Read ↗

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

SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.Semantic proximity Read ↗

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

Mosaic cat eye syndrome in a child with unilateral iris coloboma.Semantic proximity Read ↗

Two cases of trisomy 16 mosaicism ascertained postnatallySemantic proximity Read ↗

Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome.Semantic proximity Read ↗

Microphthalmia-4: a sex-influenced inherited eye condition of the chicken.Semantic proximity Read ↗

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