Emanuel Syndrome: first case reported in Mexico

Ada Paloma Soto-Brambila, Alejandro Marín-Medina, Miguel Michel-Ocampo, Luis Eduardo Figuera-Villanueva, Paloma Rivero-Moragrega

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.

Palabras clave


der22; Emanuel syndrome; t(11;22); supernumerary chromosome; trisomy 11; trisomy 22

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Universidad del Zulia / Venezuela / Investigación Clínica /rinclinicas@gmail.com / ISSN 0535-5133

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