Ring chromosome 13, case report

Main Article Content

Diana Vanessa Suárez Ayala
Gabriel del Castillo
Yoisse Velasco

Abstract

DOI: 10.1016/j.rcpe.2016.02.001


Background


Ring chromosome 13 syndrome accounts for one-fifth of the ring chromosomes compatible with life. The estimated incidence is 1 in 58.000 live births. In most cases this chromosomal abnormality is a break in the terminal arms of chromosome 13, with the resulting loss of genetic material.


Aim


To describe a case of ring chromosome 13 syndrome diagnosed at birth and its phenotype/genotype correlation.


Materials and methods


A case report of a newborn with ring chromosome 13 syndrome and a correlation of the phenotype/genotype.


Result


Diagnosis was confirmed by G-banding. In this case the phenotype correlated with loss of genetic material critical area 13q34, corresponding to GroupI.


Conclusions


Ring chromosome 13 syndrome is a rare condition in our population, but must be taken into account in the presence of a newborn phenotype as described here.


 

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How to Cite
Suárez Ayala, D. V., del Castillo, G., & Velasco, Y. (2016). Ring chromosome 13, case report. Pediatría, 49(1), 31–35. Retrieved from https://revistapediatria.emnuvens.com.br/rp/article/view/30
Section
Case report

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