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12 January 2020 : Case report  Saudi Arabia

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

Rare coexistence of disease or pathology

Rakan AlSaad1BCEF, Jeylan ElMansoury12ABDE, Selwa A.F. AlHazzaa12DG, Qais S. Dirar12ACEG*

DOI: 10.12659/AJCR.918128

Am J Case Rep 2020; 21:e918128


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 of an 8-year-old female with chromosome 1 q31 and q42.1 deletion with congenital glaucoma since birth. She was found to have bilateral buphthalmos and large cloudy corneas and was also unable to follow or fixate in any directional gaze with either eye. Family history was negative for congenital glaucoma and both parents are healthy and non-consanguineous. Karyotyping showed chromosome 1 microdeletion, 46, XX, del (1) (q31q42.1) on high resolution G-banding. Further genetic testing showed no mutations in the CYP1B1 gene.

CONCLUSIONS: In summary, we describe a rare presentation of congenital bilateral glaucoma in the context of chromosome 1 q31 and q42.1 deletion. This clinical manifestation is uncommon when compared with that of other subsets of chromosome 1 deletions. Thus, we emphasize the need to explore factors contributing to the development of PCG in patients with chromosomal 1 deletion.

Keywords: Chromosome Deletion, Congenital Abnormalities, Glaucoma, Abnormalities, Multiple, Child, Chromosome Banding, Chromosomes, Human, Pair 1, genetic testing, Karyotyping, Phenotype

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923