Partial trisomy 13 in an infant with a mild phenotype: application of fluorescence in situ hybridization in cytogenetic syndromes.
作者信息
Begovic D, Hitrec V, Lasan R, Letica L, Baric I, Sarnavka V, Galic S
机构信息
Division of Genetics and Metabolism, Department of Pediatrics, University Hospital Center, Zagreb, Croatia.
出版信息
Croat Med J. 1998 Jun;39(2):212-5.
PMID:9575279
Abstract
We report on a month-old infant with dysmorphic face and several anomalies known to be associated with trisomy 13. Fluorescence in situ hybridization (FISH) studies performed on metaphase cells allowed us to identify an extra material on the short arm of the chromosome 13 as a duplication of 13q22-qter.
摘要
Zotero 插件