Santana HEE, Tamayo CVJ, Rodríguez FEG

Language: Spanish
References: 10
Page: 356-360
PDF size: 327.03 Kb.

ABSTRACT

An eight-year-old female patient was taken to the Provincial Center of Medical Genetics from Holguin due to her facial and limb dysmorphias, and moderate to severe intellectual disability. The karyotype was performed in peripheral blood using lymphocyte culture micro-technique. The 22 analyzed metaphases showed the chromosomal finding of a karyotype: 46, XX, der (18), (pter 11.1), in a patient with terminal deletion on the short arm of chromosome 18, associated with a congenital hypothyroidism. The aim of this study is to describe a cytogenetic finding associated with a genetic metabolic disease, aggravating its clinical manifestations. It is considered important to carry out the early diagnosis of these genetic diseases in order to provide timely treatment, early stimulation, as well as, an adequate genetic counseling to family members.

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