Emanuel Syndrome: first case reported in Mexico

  • Ada Paloma Soto-Brambila Instituto Mexicano del Seguro Social. Guadalajara, Mexico.
  • Alejandro Marín-Medina Instituto Mexicano del Seguro Social. Guadalajara, Mexico.
  • Miguel Michel-Ocampo Instituto Mexicano del Seguro Social. Guadalajara, Mexico.
  • Luis Eduardo Figuera-Villanueva Instituto Mexicano del Seguro Social. Guadalajara, Mexico.
  • Paloma Rivero-Moragrega Instituto Mexicano del Seguro Social. Guadalajara, Mexico.
Palabras clave: der22, Emanuel syndrome, t(11, 22), supernumerary chromosome, trisomy 11, trisomy 22

Resumen

Emanuel Syndrome is a rare genomic syndrome characterized by a supernumerary derivative 22 chromosome, acquired through an inherited chromosomal imbalance of translocation (11;22). It is characterized by severe mental retardation, facial dysmorphia, genitourinary anomalies and cardiac birth defects. We report the case of a 3-yearold girl who was born with a cleft palate, bilateral hip dysplasia and patent ductus arteriosus. The patient presented with a delay in her neurocognitive development, which prompted a genetic evaluation to be performed, demonstrating a supernumerary derivative (22) t(11;22). In the familial assessment, the mother and maternal grandmother’s karyotype revealed a balanced t(11;22). The clinical manifestations, genetic analysis and the inheritance pattern are consistent with the diagnosis of Emanuel syndrome. This is the first reported case of this syndrome in Mexico.

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Publicado
2018-05-22
Cómo citar
Soto-Brambila, A. P., Marín-Medina, A., Michel-Ocampo, M., Figuera-Villanueva, L. E., & Rivero-Moragrega, P. (2018). Emanuel Syndrome: first case reported in Mexico. Investigación Clínica, 59(1), 41- 46. Recuperado a partir de https://www.produccioncientificaluz.org/index.php/investigacion/article/view/29078
Sección
Reporte de Caso