Síndrome 47, xxx
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Transcript of Síndrome 47, xxx
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POLISOMIAS DE LOS CROMOSOMAS X E Y
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Síndrome 47, XXX
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• Etiología
o No disyunción
o Mosaisismo
o 1/1000 nacimientos
o Diagnostico 10%
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• Cuadro clínico
o Peso bajoo Clinodictaliao Epicanto o Microcefalia o Hipotonía
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o Retraso mental o Hipertelorismo o Epilepsia o Menarca retrasada, POFo Malformaciones genitourinarias
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Síndrome 48, XXXX
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• Cuadro clínico.
o Talla altao CI 60o Retraso en el lenguaje o Sinostosis radiocubital
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Síndrome 49, XXXXX
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• Cuadro clínico
o CI 50o Talla bajao Microcefalia o Dentición anormalo Cuello cortoo Facies toscao Cardiopatía o Anormalidades esqueléticas
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Síndrome 47,XYY
o 1/1000
o CI: 10-15 puntos menos o Retraso mental leve a moderado
o Talla alta >180o Acné o Venas varicosas sinostosis radiocubitalo Clinodactilia o Hernia inguinalo Displasia de pabellones auriculares
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Síndrome 48, XYYY
o Infrecuenteo Dentición anormal
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o CI entre 65 y 86 o Infertilidad
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Pentasomía 49, XYYYY
o Hipertelorismo o Micrognatia o Sinostosis radio cubitalo Escoliosis