Ophthalmologic features in a female-phenotype 46,XY patient with 2q22.2 duplication

Mark Rabinovich; Adrian Gericke

doi:10.1080/13816810.2025.2600322

December 10, 2025Ophthalmic Genetics

Ophthalmologic features in a female-phenotype 46,XY patient with 2q22.2 duplication

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Key Points

The objective is to report the ophthalmologic features in a 46,XY patient with a unique phenotype associated with 2q22.2 duplication.
Detailed ophthalmologic examination was performed on the patient.
Assessment of the patient's phenotype was conducted alongside genetic analysis.
Identification of unique ophthalmologic features in the patient.
The findings contribute to understanding the implications of 2q22.2 duplication in DSD.

Implication

Detailed report identifies novel phenotype in a 46,XY patient with DSD and 2q22.2 duplication, highlighting unique ophthalmologic features.

Abstract

This is, to the best of our knowledge, the first detailed ophthalmologic report of a patient with DSD with 2q22 duplication with a presentation of a novel phenotype.

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Cite This Study

Rabinovich et al. (2025) studied this question.

synapsesocial.com/papers/69401d542d562116f28f8838 https://doi.org/10.1080/13816810.2025.2600322

View at Publisher

Ask AI

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Ophthalmologic features in a female-phenotype 46,XY patient with 2q22.2 duplication

Key Points

Implication

Abstract

Discussion

Cite This Study

Ophthalmologic features in a female-phenotype 46,XY patient with 2q22.2 duplication

Key Points

Implication

Abstract

Discussion

Cite This Study

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