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Article

Chromosome 1q Terminal Deletion and Congenital Glaucoma: A Case Report.

The American journal of case reports - 12 Jan 2020

AlSaad Rakan, ElMansoury Jeylan, AlHazzaa Selwa A F, Dirar Qais S

Abstract excerpt

BACKGROUND This paper aims to highlight the presence of primary congenital glaucoma (PCG) in a patient with chromosome 1 q31 and q42.1 deletion of the distal long arm. The characteristic combination of phenotypic features in this deletion include dysmorphic features, psychomotor retardation and neurological signs; however, PCG has never been recognized as part of these features before. CASE REPORT This is a case...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 31927558
DOI: 10.12659/AJCR.918128
PMCID: PMC6977633

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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.

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