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Inicio Archivos de la Sociedad Española de Oftalmología (English Edition) Cataract in a patient with 47,XYY sex chromosome aneuploidy
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Vol. 93. Issue 6.
Pages 303-306 (June 2018)
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Vol. 93. Issue 6.
Pages 303-306 (June 2018)
Short communication
Cataract in a patient with 47,XYY sex chromosome aneuploidy
Catarata congénita en un paciente con aneuploidía cromosómica 47,XYY
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A. Medina-Andradea, C. Villanueva-Mendozaa, S. Arenasb, V. Cortés-Gonzáleza,
Corresponding author
vianney.cortes@hotmail.com

Corresponding author.
a Asociación para Evitar la Ceguera en México, Institución de Asistencia Privada, Hospital Dr. Luis Sánchez Bulnes, Mexico City, Mexico
b Laboratorio de Medicina Genómica, Instituto Nacional de Rehabilitación, Mexico City, Mexico
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Abstract
Case report

The case concerns a 16-year-old boy with a history of high myopia and unilateral congenital cataract, tall stature for age, facial dysmorphism, hypermobile metacarpal-phalangeal joints, as well as behavioral problems. The mother had a history of recurrent pregnancy loss. Chromosomal analysis of the peripheral blood lymphocytes reported 47,XYY.

Discussion

Patients with sex chromosome aneuploidy 47,XYY have higher risk of congenital malformations, although ophthalmological anomalies are unusual. Evaluation of patients with tall stature and behavioral problems should include a chromosomal analysis in order to determine the etiology.

Keywords:
Congenital cataract
47,XYY syndrome
High myopia
Resumen
Caso clínico

Paciente masculino de 16 años de edad con antecedente de miopía alta y catarata congénita unilateral, talla alta, dismorfias faciales, hiperlaxitud de falanges y alteraciones de la conducta. La madre tenía antecedente de 3 pérdidas gestacionales. Se realizó cariotipo en sangre periférica reportando 47,XYY.

Discusión

Los pacientes con aneuploidía 47,XYY tienen mayor riesgo de malformaciones congénitas, las alteraciones oftalmológicas no son frecuentes. La evaluación de pacientes con talla alta y alteraciones de la conducta debe incluir cariotipo como parte del abordaje diagnóstico.

Palabras clave:
Catarata congénita
Síndrome 47,XYY
Miopía alta

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