Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review

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dc.contributor.authorCatena, Sofía
dc.contributor.authorAracena, Mariana
dc.contributor.authorPizarro, Oscar
dc.contributor.authorEspinoza, Karena
dc.contributor.authorLay-Son, Guillermo
dc.date.accessioned2022-03-04T19:37:53Z
dc.date.available2022-03-04T19:37:53Z
dc.date.issued2017
dc.description.abstractProximal deletion of 6q is a relatively rare chromosomal abnormality. Reported patients have deletions of different sizes but share partial overlap and present with similar clinical features, and some of them were described prior to the introduction of chromosome microarrays. We describe a male patient with prenatal sonographic findings of nuchal edema, intrauterine growth restriction, renal pelvis dilatation, and oligohydramnios. At birth, facial dysmorphism, retro/micrognathia, a short and wide neck as well as cardiovascular and renal anomalies were noted. His clinical evolution has been marked by failure to thrive, severe developmental delay, and cognitive impairment. The diagnosis of Toriello-Carey syndrome (TCS) was based on his “gestalt.” aCGH identified a de novo proximal deletion of 17 Mb in 6q (6q12q14.3). Deletion 6q13q14 seems to be responsible for the main facial features and should be considered within the differential diagnosis of TCS.es
dc.description.versionVersión Publicadaes
dc.identifier.citationCatena, S., Aracena, M., Pizarro, Ó., Espinoza, K., & Lay-Son, G. (2017). Deleción proximal de 6q superpuesta con fenotipo facial de Toriello-Carey: hallazgos prenatales, evolución clínica, diagnóstico diferencial y revisión. Sindromología molecular , 9 (1), 15–21. https://doi.org/10.1159/000484427es
dc.identifier.urihttps://doi.org/10.1159/000484427es
dc.identifier.urihttp://hdl.handle.net/11447/5664
dc.language.isoenes
dc.subjectDeleción de 6qes
dc.subjectDismorfismo faciales
dc.subjectSíndrome de Toriello-Careyes
dc.titleProximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Reviewes
dc.typeArticlees
dcterms.sourceMolecular Syndromologyes

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