Emanuel syndrome in Infants: case report
Year: 2025
Type: article
Study design: Case Report
Abstract: INTRODUCTION: Emanuel syndrome is a rare genetic disease caused by the presence of a supernumerary derivative chromosome that contains material from chromosomes 11 and 22. This imbalance usually results from a 3:1 malsegregation of a parental balanced translocation between chromosomes 11 and 22. The clinical findings include weight and height changes, persistent hypotonia and cognitive impairment. Diagnosis is confirmed by G-banding karyotype and/or CGH array/SNP array. CASE REPORT: This work describes the case of an 11-month-old child treated at a tertiary center for the investigation of global hypotonia and neuropsychomotor development delay, who presented pre-auricular appendages, epicanthus and cleft palate (already repaired at the time of medical consultation). A karyotype was performed, with a result of 47,XX,+mar and a Microarray was performed, which showed duplications involving chromosomes 11 and 22, characterizing Emanuel Syndrome. At the moment, he remains under the care of the multidisciplinary team, with improvements in his neurodevelopmental milestones. CONCLUSION: The clinical manifestations of Emanuel syndrome are relatively common inpediatrics, and it is in the general pediatricians interest to identify when these ?ndings may correlate with a genetic syndrome. This research was submitted to the Ethics Committee of the monitoring service and approved by number: 76760623.9.0000.5201.
Source: Residência Pediátrica
Authors: João Albuquerque Neto, Marcelo Pacheco Filho, Ana Melo, Camila Araújo, Gabriela Leal
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4410949327