RESUMO
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
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 behavioural 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 behavioural problems should include a chromosomal analysis in order to determine the aetiology
Assuntos
Humanos , Masculino , Adolescente , Catarata/congênito , Aneuploidia , Miopia/complicações , Anormalidades Congênitas/genética , Cariótipo XYY , Acuidade Visual , Cromossomos Sexuais/genéticaRESUMO
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 behavioural 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 behavioural problems should include a chromosomal analysis in order to determine the aetiology.
