Ring chromosome 13, case report
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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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