
Doble aneuploidía (trisomía X, trisomía 18) en una recién nacida con fenotipo de trisomía 18
Author(s) -
Harry Pachajoa
Publication year - 2013
Publication title -
archivos argentinos de pediatría
Language(s) - Spanish
Resource type - Journals
eISSN - 1668-3501
pISSN - 0325-0075
DOI - 10.5546/aap.2013.e101
Subject(s) - trisomy , medicine , biology , genetics
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 fingers, ventricular septal defect, pulmonary stenosis and left clubfoot. A review of the literature and discussion of previously reported cases is made.