Partial trisomy 11p with interatrial septal aneurysm. Case report and literature review

Autor:	K, Aleck, J, Williams, C, Mongkolsmai, S, Knight, K, Taysi
Rok vydání:	1985
Předmět:	Chromosomes Human 6-12 and X Karyotyping Infant Newborn Chromosome Mapping Humans Female Trisomy Heart Atria Lymphocytes Heart Aneurysm Translocation Genetic Chromosome Banding Pedigree
Zdroj:	Annales de genetique. 28(2)
ISSN:	0003-3995
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::55ca95c0f070d063f14e7cf0180aa499 https://pubmed.ncbi.nlm.nih.gov/3876056 Zobrazit plný text záznamu