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The emerging ophthalmological phenotype of XXYY syndrome

The emerging ophthalmological phenotype of XXYY syndrome
The emerging ophthalmological phenotype of XXYY syndrome
48 XXYY is a sex chromosome tetrasomy condition which causes tall stature, hypergonadotrophic hypogonadism, facial dysmorphism, developmental delay and behavioural difficulties.

Over 100 cases have been published in the literature but there is little information on the ophthalmic findings in these patients. Previously reported ophthalmic findings have included Duane anomaly, high myopia and retinal dysfunction. We report a case of 48, XXYY syndrome in a child who presented with developmental delay. He was referred to Ophthalmology with a squint and on detailed examination was found to be hyperopic; with an unusual pigmented fundal appearance he had a normal electroretinogram and normal visual evoked potentials.
2155-9570
1-2
Ashraf, Tazeen
5ff012d6-264c-4444-8e69-ec9747e66833
Shalaby, Ahmed
cff10475-eb61-497e-901f-74b5caf30abd
Mercer, Catherine
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Bolton, Kate
ddd9528f-ad08-40f9-bf13-59e7d2bfaa6e
Self, James
0f6efc58-ae24-4667-b8d6-6fafa849e389
Ashraf, Tazeen
5ff012d6-264c-4444-8e69-ec9747e66833
Shalaby, Ahmed
cff10475-eb61-497e-901f-74b5caf30abd
Mercer, Catherine
14ff7942-6f8f-4031-b8f6-bdc2f1465524
Bolton, Kate
ddd9528f-ad08-40f9-bf13-59e7d2bfaa6e
Self, James
0f6efc58-ae24-4667-b8d6-6fafa849e389

Ashraf, Tazeen, Shalaby, Ahmed, Mercer, Catherine, Bolton, Kate and Self, James (2016) The emerging ophthalmological phenotype of XXYY syndrome. Journal of Clinical & Experimental Ophthalmology, 7 (4), 1-2, [1000586]. (doi:10.4172/2155-9570.1000586).

Record type: Article

Abstract

48 XXYY is a sex chromosome tetrasomy condition which causes tall stature, hypergonadotrophic hypogonadism, facial dysmorphism, developmental delay and behavioural difficulties.

Over 100 cases have been published in the literature but there is little information on the ophthalmic findings in these patients. Previously reported ophthalmic findings have included Duane anomaly, high myopia and retinal dysfunction. We report a case of 48, XXYY syndrome in a child who presented with developmental delay. He was referred to Ophthalmology with a squint and on detailed examination was found to be hyperopic; with an unusual pigmented fundal appearance he had a normal electroretinogram and normal visual evoked potentials.

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More information

Accepted/In Press date: 26 August 2016
e-pub ahead of print date: 29 August 2016
Organisations: Faculty of Medicine

Identifiers

Local EPrints ID: 400270
URI: http://eprints.soton.ac.uk/id/eprint/400270
ISSN: 2155-9570
PURE UUID: 357ab894-a9fe-473f-b744-57da8f8b12f5
ORCID for James Self: ORCID iD orcid.org/0000-0002-1030-9963

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Date deposited: 13 Sep 2016 13:49
Last modified: 18 Feb 2021 17:06

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Contributors

Author: Tazeen Ashraf
Author: Ahmed Shalaby
Author: Catherine Mercer
Author: Kate Bolton
Author: James Self ORCID iD

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