Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event

por Genesio, Rita, Ronga, Valentina, Castelluccio, Pia, Fioretti, Gennaro, Mormile, Angela, Leone, Graziella, Conti, Anna, Cavaliere, Maria Luigia, Nitsch, Lucio
Publicado 2013

Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome

por Genesio, Rita, Fontana, Paolo, Mormile, Angela, Casertano, Alberto, Falco, Mariateresa, Conti, Anna, Franzese, Adriana, Mozzillo, Enza, Nitsch, Lucio, Melis, Daniela
Publicado 2015

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants

por Cappuccio, Gerarda, Vitiello, Francesco, Casertano, Alberto, Fontana, Paolo, Genesio, Rita, Bruzzese, Dario, Ginocchio, Virginia Maria, Mormile, Angela, Nitsch, Lucio, Andria, Generoso, Melis, Daniela
Publicado 2016

Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report

por Genesio, Rita, Maruotti, Giuseppe Maria, Saccone, Gabriele, Mormile, Angela, Conti, Anna, Cicatiello, Rita, Sarnataro, Viviana, Sirico, Angelo, Izzo, Antonella, Martinelli, Pasquale, Nitsch, Lucio
Publicado 2018

Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation

por Genesio, Rita, Mormile, Angela, Licenziati, Maria Rosaria, De Brasi, Daniele, Leone, Graziella, Balzano, Sara, Izzo, Antonella, Bonfiglio, Ferdinando, Conti, Anna, Fioretti, Gennaro, Lenta, Selvaggia, Poggiano, Maria Rita, Siani, Paolo, Nitsch, Lucio
Publicado 2015