RESUMEN

Two patients with partial deletion of the short arm of number 4 chromosome are reported and their phenotypes and genetic characteristics are discussed. The genetic work up of both patients are compared concluding that a deletion of a part of the short arm of one of the 4th pair respective of the chromosome segment which is missing, is sufficient to produce this syndrome.

Asunto(s)

Anomalías Múltiples/genética , Aberraciones Cromosómicas/genética , Deleción Cromosómica , Cromosomas Humanos 4-5 , Discapacidad Intelectual/genética , Trastornos de los Cromosomas , Cara , Humanos , Recién Nacido , Cariotipificación , Masculino , Fenotipo , Síndrome