Deleción parcial 5p y duplicación parcial 5q derivadas de una inversión pericéntrica familiar

Abstract

During the meiotic process, most of the structural balanced chromosome alterations will affect either the specific chromosome pairing, or the chromosome and cromatides segregation, due to the number and type of chiasmata of the chromosomes implicated in those balanced rearrangements. Thus, the major clinical significance for normal carriers is the risk of transmition to their offspring unbalanced derivative. Here we present a malformed newborn infant with an abnormal chromosome 5 consisting in a partial deletion 5p and a partial duplication 5q. This abnormal chromosome 5 was a recombinant chromosome derived from a large paternal pericentric inversion. The cytogenetic study of the family showed that there were some other members who were carriers of the same balanced inversion. The clinical features of this patient are a mixture of some anomalies clearly related to the 5p deletion or "Cri-du-Chat" syndrome, like the crying and facial appearance, together with other that are describe on patients with 5q duplication, like the cardiac malformation. Nevertheless, he also shows some congenital defects as preauricular tags and anal atresia that, as for as we know, have not been previously described in patients with a similar chromosomal alteration. A literature review was performed of the genes localize at the chromosome regions involve in the inversion, in an effort to establish a relation with the patient phenotype.