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2014, Number 3

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Rev Cub Gen 2014; 8 (3)

Correlation kariotype-phenotype in a patient with 14q32 deletion

Rea GME, Lantigua CA, Méndez RLA

Language: Spanish
References: 20
Page: 40-47
PDF size: 762.17 Kb.


ABSTRACT

The phenotypic evolution of a patient whit a 14q32 deletion, using the karyotype-phenotype relationship. The specific changes in the dysmorphology phenotype through life, as well as the hematological and immunochemical parameters. Finally, clinical manifestations and the complications in this patient are related to deleted chromosome segments.


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