Partial trisomy 11p with interatrial septal aneurysm. Case report and literature review.
A newborn female infant presented with hypotonia, joint hyperextensibility, cardiac murmur, macroglossia, and hepatosplenomegaly. Karyotype of the child revealed partial trisomy of chromosome 11p derived from a paternal balanced translocation. Echocardiogram obtained in the newborn period suggested interatrial aneurysm, which was confirmed on post-mortem examination. Interatrial septal aneurysm is a rare abnormality not previously described in partial trisomy 11p.
D002871:Chromosome Banding; D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006322:Heart Aneurysm / Q000175:diagnosis / Q000235:genetics*; D006325:Heart Atria; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008214:Lymphocytes / Q000166:cytology; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy