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Title:	Trisomy 22 in a newborn infant of 39 weeks Trisomía 22 en un recién nacido de 39 semanas
metadata.dc.creator:	Ávila, Ana María Fernández, Isabel Linares, Boris Quevedo, María Luisa Aguana, Carlos David Celis, Luis Gustavo
Keywords:	cerebral MRI; CT scan; dimorphism; malformations; trisomy 22.;dimorfismo; malformaciones; resonancia magnética cerebral; tomografía axial; trisomía 22.
Publisher:	Universidad Colegio Mayor de Cundinamarca
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metadata.dc.format.*:	application/pdf
metadata.dc.type:	info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion info:eu-repo/article/published info:eu-repo/article/published info:eu-repo/article/published
Description:	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. En este reporte presentamos el caso de un paciente masculino nacido de 39 semanas, producto de tercera gestación (dos abortos anteriores) de madre de 38 años y padre de 46 años. Las características clínicas del paciente incluyen macrocefalia, fontanela anterior amplia con diástasis de sutura sagital, escleras grisáceas, pabellones auriculares displásicos de implantación baja, raíz nasal corta, pliegue simiano en mano derecha e hirsutismo. Se obtienen tomografía axial computarizada de cráneo y resonancia magnética cerebral que presentan agenesia de cuerpo calloso y dilatación del asta occipital de los ventrículos laterales.El cariotipo en sangre periférica evidencia trisomía parcial del cromosoma 22 (47, XY+22, del (22) (q11.2qter)). El paciente requirió 7 días de hospitalización y se da egreso hospitalario en buenas condiciones generales pero con un retardo psicomotor severo e hipotonía generalizada. Dadas las malformacionesestructurales severas que se presentan en este síndrome, los embarazos a término y la supervivencia postnatal de los niños con trisomía 22 son eventos muy raros. El caso de este paciente complementa otros reportes ilustrando que la trisomía 22 puede sobrevivir más allá del nacimiento.
metadata.dc.source:	NOVA Biomedical Sciences Journal; Vol. 12, Núm. 21 (2014); 103-108 Nova; Vol. 12, Núm. 21 (2014); 103-108 NOVA Ciências Biomédicas Publicação; Vol. 12, Núm. 21 (2014); 103-108 2462-9448 1794-2470
URI:	https://repository.unad.edu.co/handle/10596/29845
Other Identifiers:	http://hemeroteca.unad.edu.co/index.php/nova/article/view/999 10.22490/24629448.999
Appears in Collections:	Revista Nova

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