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Inicio Revista de Psiquiatría y Salud Mental (English Edition) X tetrasomy (48,XXXX karyotype) in a girl with altered behaviour
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Vol. 3. Issue 3.
Pages 102-105 (January 2010)
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Vol. 3. Issue 3.
Pages 102-105 (January 2010)
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X tetrasomy (48,XXXX karyotype) in a girl with altered behaviour
Tetrasomía X (cariotipo 48,XXXX) en una niña con trastorno de conducta
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Maria José Rodadoa, Irene Manchón Trivesb, Belén Lledó Boschc, Francisco Galán Sánchezb,
Corresponding author
a. Unidad de Salud Mental Infanto-Juvenil, Hospital Vega Baja, Orihuela, Alicante, Spain
b Centro de Genética Humana, Alicante, Spain
c Unidad de Biología Molecular, Instituto Bernabéu, Alicante, Spain
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Abstract
Introduction

We report the case of a 14-year-old girl with mental retardation and dysmorphic features referred to child psychiatry because of altered behaviour at school.

Material and methods

Karyotyping (GTG banding), in situ fluorescent hybridisation (FISH) and molecular study of parental origin by polymorphic STS were performed.

Results

Genetic study revealed a 48,XXXX karyotype with a maternal origin of the X-tetrasomy. The mechanism was successive non-dysjunction at meiosis I and II.

Conclusions

The interest of this case lies in the rarity of the chromosomal anomaly and its late diagnosis, leading to a failure to adapt the girl's education to her needs, with consequences for her psyche.

Keywords:
X-tetrasomy
Mental retardation
Karyotype
Altered behaviour
Resumen
Introducción

Adolescente de 14 años con retraso mental y rasgos dismórficos, derivada a psiquiatría infantil por alteraciones de conducta en el medio escolar.

Material y métodos

Cariotipo (bandas GTG), hibridación in situ fluorescente (FISH), estudio molecular del origen parental mediante STS polimórficos.

Resultados

El estudio genético reveló un cariotipo 48,XXXX, con un origen materno de la tetrasomía X por no-disyunción sucesiva en meiosis I y II.

Conclusiones

El interés del caso reside en la rareza de la alteración cromosómica y en su diagnóstico tardío, lo cual impidió una adecuación de las necesidades educativas con la consiguiente repercusión en el psiquismo de la niña.

Palabras clave:
Tetrasomía X
Retraso mental
Cariotipo
Alteración de conducta
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