RESUMEN
The Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct syndromes with a shared cytogenetic deletion of chromosome 15q11q13 in most patients. Currently the diagnosis of PWS/AS is clinically suspected and can be confirmed by genetic laboratory tests. However, their diagnosis remains difficult in neonates and early infants because many features of the syndromes change with age and the typical features do not present in this early period. Recently, we experienced 5 cases of PWS/AS, confirmed by fluorescence in situ hybridization (FISH) study in neonates and infants admitted to neonatal intensive care unit due to hypotonia and feeding problems. We believe that these syndromes are far more common than previously thought, and report thes 5 cases to emphasize the importance of early diagnosis in order to provide appropriate counselling for the parents. We recommend molecular genetic studies of PWS/ AS in floppy infants who have feeding problems during the neonate stage and infancy.
Asunto(s)
Humanos , Lactante , Recién Nacido , Síndrome de Angelman , Citogenética , Diagnóstico , Diagnóstico Precoz , Fluorescencia , Hibridación in Situ , Cuidado Intensivo Neonatal , Biología Molecular , Hipotonía Muscular , Padres , Síndrome de Prader-WilliRESUMEN
The Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct syndromes with a shared cytogenetic deletion of chromosome 15q11q13 in most patients. Currently the diagnosis of PWS/AS is clinically suspected and can be confirmed by genetic laboratory tests. However, their diagnosis remains difficult in neonates and early infants because many features of the syndromes change with age and the typical features do not present in this early period. Recently, we experienced 5 cases of PWS/AS, confirmed by fluorescence in situ hybridization (FISH) study in neonates and infants admitted to neonatal intensive care unit due to hypotonia and feeding problems. We believe that these syndromes are far more common than previously thought, and report thes 5 cases to emphasize the importance of early diagnosis in order to provide appropriate counselling for the parents. We recommend molecular genetic studies of PWS/ AS in floppy infants who have feeding problems during the neonate stage and infancy.