Trisomy 22 in a newborn infant of 39 weeks

Trisomía 22 en un recién nacido de 39 semanas

Published 2014-07-01

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Vol. 12 No. 21 (2014)
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Artículo Original Producto de Investigación
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ávila, A. M., Fernández, I., Linares, B., Quevedo, M. L., Aguana, C. D., & Celis, L. G. (2014). Trisomy 22 in a newborn infant of 39 weeks. NOVA, 12(21). https://doi.org/10.22490/24629448.999
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https://doi.org/10.22490/24629448.999
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Ana María ávila
    Isabel Fernández
      Boris Linares
        María Luisa Quevedo
          Carlos David Aguana
            Luis Gustavo Celis
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              In this report, we present the case of a male patient who was born 39 weeks, the product of third gestation (two previous abortions) with a 38 year old mother and a 46 year old father. The clinical characteristics of the patient include macrocephaly, extensive anterior fontanelle with diastasis recti sagittal suture, ochronosis grayish pavilions dysplastic headphones low-set, short nasal root, simian crease in her right hand and hirsutism. We obtained a computerized axial tomography of skull and a brain magnetic resonance with agenesis of the corpus callosum and dilation of the ASTA occipital of the lateral ventricles. The karyotype in peripheral blood evidence partial trisomy of chromosome 22 (47, XY+22, del (22) (q11.2qter)). The patient required 7 days of hospitalization and was released from the hospital in good condition overall, but with a psychomotor retardation and severe generalized hypotonia. Given the severe structural malformations that are present in this syndrome, the term pregnancy and post birth survival of children with trisomy 22 are very rare events. The case of this patient complements other reports illustrating that trisomy 22 can survive beyond birth.

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              28. DOI: http://dx.doi.org/10.22490/24629448.999
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