Pallister–Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis

Autor: Libotte, Francesco, Bizzoco, Domenico, Gabrielli, Ivan, Mesoraca, Alvaro, Cignini, Pietro, Vitale, Salvatore Giovanni, Marilli, Ilaria, Gulino, Ferdinando Antonio, Rapisarda, Agnese Maria Chiara, Giorlandino, Claudio

Publikováno v: In Taiwanese Journal of Obstetrics & Gynecology December 2016 55(6):863-866

Discordance between karyotype from amniotic fluid and postnatal lymphocyte cultures

Autor: Bizzoco, Domenico, Gabrielli, Ivan, Tamburrino, Caterina, Carpineto, Lorena Sonia, Mesoraca, Alvaro

Discordance between karyotype seen from amniocentesis and from neonatal blood is a very unusual condition with different possible causes.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::79791e9bb024f7f84608aeae68f18499
https://europepmc.org/articles/PMC3421951/

A new case of interstitial 1q 25.3-32.1 deletion: cytogenetic analysis molecular characterization and ultrasound findings.

Autor: Libotte, Francesco, Bizzoco, Domenico, Gabrielli, Ivan, Tamburrino, Caterina, Ernandez, Cristina, Carpineto, Lorena, D'Aleo, Maria Pia, Cima, Antonella, Mesoraca, Alvaro, Cignini, Pietro, Aloisi, Alessia, Angioli, Roberto, Vitale, Salvatore Giovanni, Giorlandino, Claudio

Publikováno v: Journal of Prenatal Medicine; Jan-Jun2015, Vol. 9 Issue 1/2, p8-11, 4p

Prenatal Diagnosis of a Fetus with de novo Supernumerary Ring Chromosome 16 Characterized by Array Comparative Genomic Hybridization

Autor: Cignini, Pietro, Dinatale, Angela, D'Emidio, Laura, Giacobbe, Annamaria, Pappalardo, Elisa Maria, Ermito, Santina, Bizzoco, Domenico, Di Giacomo, Gianluca, Gabrielli, Ivan, Mesoraca, Alvaro, Giorlandino, Maurizio, Giorlandino, Claudio

Publikováno v: American Journal of Perinatology Reports; September 2011, Vol. 1 Issue: 1 p029-032, 4p

Retrospective study evaluating the performance of a first-trimester combined screening for trisomy 21 in an Italian unselected population.

Autor: Padula F; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Cignini P; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Giannarelli D; Scientific Direction, Biostatistical Unit, Regina Elena National Cancer Institute, Rome, Italy., Brizzi C; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Coco C; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., D'Emidio L; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Giorgio E; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Giorlandino M; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Mangiafico L; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Mastrandrea M; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Milite V; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Mobili L; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Nanni C; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Raffio R; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Taramanni C; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Vigna R; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Mesoraca A; Department of Genetics and Molecular Biology, Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Bizzoco D; Department of Genetics and Molecular Biology, Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Gabrielli I; Department of Genetics and Molecular Biology, Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Di Giacomo G; Department of Genetics and Molecular Biology, Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Barone MA; Department of Genetics and Molecular Biology, Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Cima A; Department of Genetics and Molecular Biology, Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Giorlandino FR; Department of Genetics and Molecular Biology, Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Emili S; Department of Genetics and Molecular Biology, Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Cupellaro M; Department of Genetics and Molecular Biology, Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Giorlandino C; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy.

Publikováno v: Journal of prenatal medicine [J Prenat Med] 2014 Apr-Jun; Vol. 8 (3-4), pp. 50-6.