hrp0092p2-181 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

A Novel Case Of Paternal Isodisomy for Chromosome 7 Associated with Overgrowth

Pagliazzi Angelica , Artuso Rosangela , Guarducci Silvia , Pantaleo Marilena , Lucherini Barbara , Sani Ilaria , Landini Samuela , Traficante Giovanna , Provenzano Aldesia , La Barbera Andrea , Vergani Debora , Tiberi Lucia , Formicola Daniela , Mancano Giorgia , Bosi Emanuele , Peluso Francesca , Forzano Giulia , Contrò Gianluca , Di Giovanni Fabiana , Stagi Stefano , Giglio Sabrina

We report a pediatric patient with an undiagnosed and complex medical manifestation who was shown to have paternal isodisomy at chromosome 7. Our case is a female patient presented for increasing overweight, parotid hemangioma and gastroesophageal reflux with laryngomalacia. She was born at 35+4 weeks of gestation and her birth weight, length and occipitofrontal circumference (OFC) were 2500 g, 49 cm and 33 cm, respectively. At the time of our visit she was 16 months old, ...