RESUMEN

Paracentric inversions, involving a rearrangement within one chromosome arm, are rare. Although carriers of balanced paracentric inversions should theoretically not be at risk for abnormal offspring, such cases have been reported. We report on 2 unrelated cases of inherited paracentric inversions of 1p with breakpoints at p32 and p36.1 and p32.3 and p36.22 in individuals with abnormal phenotypes. Another case of 2 abnormal monozygotic twins with a de novo paracentric inversion of 1p with breakpoints at p22 and p34 is presented as well.

Asunto(s)

Anomalías Múltiples/genética , Inversión Cromosómica , Cromosomas Humanos Par 1 , Células Cultivadas , Preescolar , Fragilidad Cromosómica , Humanos , Lactante , Recién Nacido , Masculino , Fenotipo , Gemelos Monocigóticos/genética