Álvarez AR, Chima GMC, Madrid CV, Gálvez GE, Rivera VMR Cervantes PA

Idioma: Español
Referencias bibliográficas: 22
Paginas: 212-217
Archivo PDF: 135.62 Kb.

RESUMEN

La mayoría de las deleciones del brazo corto del cromosoma 5 se asocian con el síndrome de cri du chat: o monosomía 5p. Los pacientes muestran variabilidad fenotípica y citogenética. Se presentan dos pacientes del sexo masculino con retraso psicomotor y algunas características fenotípicas del síndrome de cri du chat. El estudio citogenético reveló una deleción de diferente tamaño del brazo corto de un cromosoma 5 en cada paciente. Los datos clínicos presentes correlacionan con el tamaño y localización de los segmentos deletados de acuerdo a lo informado en la literatura. Aun cuando este síndrome constituye una entidad clínica bien definida, el diagnóstico clínico e incluso citogenético puede resultar difícil, siendo útil en estos casos el empleo de técnicas moleculares.

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