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 case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation.

Ophthalmic genetics - 1 Apr 2020

Hosono Katsuhiro, Kawase Kazuhide, Kurata Kentaro, Niimi Yusuke, Saitsu Hirotomo, Minoshima Shinsei, Ohnishi Hidenori, Yamamoto Takahiro, Hikoya Akiko, Tachibana Nobutaka, Fukao Toshiyuki, Yamamoto Tetsuya, Hotta Yoshihiro

Abstract excerpt

Background: Chromosomal deletion involving the 6p25 region results in a clinically recognizable syndrome characterized by anterior eye chamber anomalies with risk of glaucoma and non-ocular malformations (6p25 deletion syndrome). We report a newborn infant case of childhood glaucoma with a combination of partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation.Materials and methods: The...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 18
Share to Chromosomes, Human, Pair 6

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glaucoma

Share to Infant, Newborn

Share to Monosomy

Share to Phenotype

Share to Translocation, Genetic

Share to Trisomy

Source

Identifiers

PMID: 32223580
DOI: 10.1080/13816810.2020.1744019

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

A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation.PMID 32223580Read ↗

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.Semantic proximity Read ↗

6p subtelomere deletion with congenital glaucoma, severe mental retardation, and growth impairment.Semantic proximity Read ↗

Congenital glaucoma and Silver-Russell phenotype associated with partial trisomy 7q and monosomy 15q.Semantic proximity Read ↗

Anirdia-like phenotype caused by 6p25 dosage aberrations.Semantic proximity Read ↗

Delineation of two distinct 6p deletion syndromes.Semantic proximity Read ↗

Fine mapping of the gene for autosomal dominant juvenile-onset glaucoma with iridogoniodysgenesis in 6p25-tel.Semantic proximity Read ↗

Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: phenotypic and genotypic findings.Semantic proximity Read ↗

Partial trisomy 1q (1q42.13-->qter) and partial monosomy 6q (6q27-->qter) in a girl with single median maxillary central incisor, corpus callosum dysgenesis and developmental delay.Semantic proximity Read ↗

A de novo complex karyotype with two independent balanced translocations and a double inversion of chromosome 6 presenting with multiple congenital anomalies.Semantic proximity Read ↗

A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter.Semantic proximity Read ↗

Partial trisomy of 11q23.3‐q25 inherited from a maternal low‐level mosaic unbalanced translocationSemantic proximity Read ↗

Basilar artery dolichoectasia in a boy with a combination of partial monosomy 18p and partial trisomy 20q.Semantic proximity Read ↗

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