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2 results on '"Lalatta, Faustina"'

1. 'Balanced' complex rearrangements: how many are really balanced?

Author

Vermeesch, Joris Robert, Backs, Liesbeth, Gregori, Manuela, Ciccone, Roberto, Magini, Pamela, Cifuentes, Francisco, Pramparo, Tiziano, Gimelli, Stefania, Messa, Jole, Novara, Francesca, Vetro, Annalisa, Maraschio, Paola, Bonaglia, Maria Clara, Anichini, Cecilia, Ferrero, Giovanni Battista, Silengo, Margherita, Fazzi, Elisa, Zatterale, Adriana, Fischetto, Rita, Previdere, Carlo, Belli, Serena, Turci, Alessandra, Calabrese, Giuseppe, Bernardi, Franca, Meneghelli, Emanuela, Riegel, Mariluce, Rocchi, Mariano, Guerneri, Silvana, Lalatta, Faustina, Romano, Corrado, Marco Fichera, Mattina, Teresa, Schinzel, Albert, and Zuffardi, Orsetta

2. Prenatal diagnosis of Simpson-Golabi-Behmel syndrome

Author

Simona Boito, Tommaso Rizzuti, Pamela Magini, Patrizia Mongelli, Giulia Lanzoni, Tommaso Pippucci, Marco Seri, Marco Baccarin, Faustina Lalatta, Flavia Palombo, Magini, Pamela, Palombo, Flavia, Boito, Simona, Lanzoni, Giulia, Mongelli, Patrizia, Rizzuti, Tommaso, Baccarin, Marco, Pippucci, Tommaso, Seri, Marco, and Lalatta, Faustina

Subjects
0301 basic medicine, Adult, Heart Defects, Congenital, Male, medicine.medical_specialty, genome-wide genetic analyse, Prenatal diagnosis, fetal ultrasound finding, 030105 genetics & heredity, Gigantism, Ultrasonography, Prenatal, Simpson–Golabi–Behmel syndrome, 03 medical and health sciences, Fetus, Genetic, Pathognomonic, Genes, X-Linked, Intellectual Disability, Prenatal Diagnosis, Genetics, medicine, Humans, Exome, Genetics (clinical), Exome sequencing, early prenatal diagnosi, Pregnancy, Comparative Genomic Hybridization, Obstetrics, business.industry, High-Throughput Nucleotide Sequencing, Abortion, Induced, Arrhythmias, Cardiac, Genetic Diseases, X-Linked, medicine.disease, Pedigree, 030104 developmental biology, Phenotype, Overgrowth syndrome, Mutation, Female, Autopsy, business
Abstract

Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth syndrome and it is usually diagnosed postnatally, on the basis of phenotype. Prenatal ultrasonography may show fetal alterations, but they are not pathognomonic and most of them are frequently detectable only from the 20th week of gestation. Nevertheless, early diagnosis is important to avoid neonatal complications and make timely and informed decisions about the pregnancy. We report on four fetuses from two unrelated families, in whom the application of whole exome sequencing and array-CGH allowed the identification of GPC3 alterations causing SGBS. The careful follow up of pregnancies and more sophisticated analysis of ultrasound findings led to the identification of early prenatal alterations, which will improve the antenatal diagnosis of SGBS. © 2016 Wiley Periodicals, Inc.

Published
2016

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