Publication: Ring Chromosome 13 in an Infant Girl
Date
2014
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Abstract
Abstract:
Ring chromosome 13, is an uncommon genetic syndrome. We report a girl infant with ring chromosome 13. She is 2nd offspring of family. She had no family history of genetic disorder. Karyotype showed 46xx,r(13). She had hypertelorism, wide nasal bridge, and long philtrum. She is the first report of ring chromosome 13 in Iranian children.
Description
B Jodeiry
Assistant Professor of Paediatrics, Paediatric Health Research Centre, Department of Paediatrics, Tabriz University of Medical Sciences
SA Rahmani
Assistant Professor of Medical Genetics, Ahar Isalamic Azad University
H Javaherizadeh
Assistant Professor of Paediatrics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz
K Mirnia
Current Fellow of Neonatology, Department of Paediatrics, Tabriz University of Medical Sciences, Tabriz
Keywords
ring chromosome 13, hypertelorism, wide nasal bridge