Abstract

PACHAJOA, Harry. Double aneuploidy (trisomy x, trisomy 18) in a newborn with trisomy 18 phenotype. Arch. argent. pediatr. [online]. 2013, vol.111, n.4, pp.e101-e104. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2013.e101.

We report the case of a newborn girl with a double trisomy, with a chromosome complement 48,XXX,+18, with Edwards syndrome phenotype (trisomy 18). The clinical feature included intrauterine growth retardation, dysmorphic facies, hand with overlapping fngers, ventricular septal defect, pulmonary stenosis and left clubfoot. A review of the literature and discussion of previously reported cases is made.

Keywords : Double trisomy; Edwards syndrome; Trisomy 18.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )