MACROGLOSSIA: THE IMPORTANCE OF GENETIC TESTING FOR PROGNOSIS.

Macroglossia is a condition characterized by an abnormally enlarged tongue, which may cause several complications. Beckwith-Wiedemann syndrome (BWS) is one of the causes of macroglossia and may also be associated with macrosomia and omphalocele. This syndrome may also be associated with congenital malformations and embryonal tumours. We present a clinical case of a male infant with macroglossia since birth. Genetic testing of the 11p15.5 region confirmed the diagnosis of BWS with loss of methylation in the region corresponding to domain 2 (DMR2). The methylation pattern change observed in the DMR2 region, as seen in our patient, is less common than changes in the DMR1 region and is associated with a lower risk of tumour development. Tumour screening protocols are modified according to molecular test results and geographical location. This personalised approach reduces unnecessary invasive procedures and associated anxiety and allows for more effective and efficient surveillance. [ABSTRACT FROM AUTHOR]

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