2014, Number 3
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Rev Cub Gen 2014; 8 (3)
Correlation kariotype-phenotype in a patient with 13 ring-chromosome
Rea GME, Lantigua CA, Méndez RLA
Language: Spanish
References: 25
Page: 32-39
PDF size: 690.35 Kb.
ABSTRACT
The clinical evolution of a patient with ring chromosome 13 through the karyotype-phenotype relationship. The specific dysmorphologic changes and the hematological and immunochemical parameters are described. Finally, the clinical manifestations are related to the cytogenetic findings.
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