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Sindrome de CARR-BARR-PLUNKETT

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David Velasquez

on 26 August 2015

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Transcript of Sindrome de CARR-BARR-PLUNKETT

Sindrome de CARR-BARR-PLUNKETT
Las manifestationes neurológicas consisten en un coeficiente intelectual entre 30-50, deficiencias en el lenguaje y problemas de comportamiento.
Su diagnóstico se basa en los síntomas presentes en el individuo y se confirma a través del estudio del cariotipo de la persona
La tetrasomía X es una aneuploidía cromosómica, lo que significa que surge de un defecto en la meiosis.
"Es un síndrome dismórfico que sólo padecen las mujeres y que se caracteriza por hipertelorismo, fisuras palpebrales, pliegues en epicanto, hipoplasia facial y micrognatia. ."
Causado por la presencia de cuatro cromosomas X en lugar de dos que es la condición normal.
Con estrogenos, detención del crecimiento longitudinal, intervención osea para ostroporosis

Tratamiento:
Físicamente
Mentalmente
Internamente
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