| Literature DB >> 3876056 |
K Aleck, J Williams, C Mongkolsmai, S Knight, K Taysi.
Abstract
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.Entities:
Mesh：
Year: 1985 PMID： 3876056
Source DB: PubMed Journal: Ann Genet ISSN： 0003-3995