Ring Chromosome 13 in an Infant Girl

  • 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

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.

DOI: http://dx.doi.org/10.3126/jnps.v34i1.7961

J Nepal Paediatr Soc 2014;34(1):74-76

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Abstract
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PDF
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Published
2014-03-24
How to Cite
Jodeiry, B., Rahmani, S., Javaherizadeh, H., & Mirnia, K. (2014). Ring Chromosome 13 in an Infant Girl. Journal of Nepal Paediatric Society, 34(1), 74-76. https://doi.org/10.3126/jnps.v34i1.7961
Section
Brief Reports/Case Reports/Case Series