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1. Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism

Author

Garzo, Maria, Catusi, Ilaria, Colombo, Daniela Maria, De Grada, Laura, Recalcati, Maria Paola, Rodeschini, Ornella, Barone, Chiara, Beltrami, Nicola, Busuito, Rosa, Cappellani, Stefania, Ciaschini, Anna Maria, Gulisano, Anna, Malpezzi, Elisabetta, Pecile, Vanna, Pittalis, Maria Carla, Romitti, Lorenza, Stioui, Sabine, Larizza, Lidia, and Giardino, Daniela

Published
2020
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3. Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature

Author

Recalcati, Maria Paola, Bonati, Maria Teresa, Beltrami, Nicola, Cardarelli, Laura, Catusi, Ilaria, Costa, Asia, Garzo, Maria, Mammi, Isabella, Mattina, Teresa, Nalesso, Elisa, Nardone, Anna Maria, Postorivo, Diana, Sajeva, Anna, Varricchio, Aminta, Verri, Annapia, Villa, Nicoletta, Larizza, Lidia, and Giardino, Daniela

Published
2018
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4. Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)

Author

Grati, Francesca Romana, primary, Bestetti, Ilaria, additional, De Siero, Daria, additional, Malvestiti, Francesca, additional, Villa, Nicoletta, additional, Sala, Elena, additional, Crosti, Francesca, additional, Parisi, Valentina, additional, Nardone, Anna Maria, additional, Di Giacomo, Gianluca, additional, Pettinari, Antonella, additional, Tortora, Giada, additional, Montaldi, Annamaria, additional, Calò, Annapaola, additional, Saccilotto, Donatella, additional, Zanchetti, Sara, additional, Celli, Paola, additional, Guerneri, Silvana, additional, Silipigni, Rosamaria, additional, Cardarelli, Laura, additional, Lippi, Elisabetta, additional, Cavani, Simona, additional, Malacarne, Michela, additional, Genesio, Rita, additional, Beltrami, Nicola, additional, Pittalis, Maria Carla, additional, Desiderio, Laura, additional, Gentile, Mattia, additional, Ficarella, Romina, additional, Recalcati, Maria Paola, additional, Catusi, Ilaria, additional, Garzo, Maria, additional, Miele, Lorena, additional, Corti, Cecilia, additional, Ghezzo, Sara, additional, Bertini, Veronica, additional, Cambi, Francesca, additional, Valetto, Angelo, additional, Facchinetti, Barbara, additional, Bernardini, Laura, additional, Capalbo, Anna, additional, Balducci, Federica, additional, Pelo, Elisabetta, additional, Minuti, Barbara, additional, Pescucci, Chiara, additional, Giuliani, Costanza, additional, Renieri, Alessandra, additional, Longo, Ilaria, additional, Tita, Rossella, additional, Castello, Giuseppe, additional, Casalone, Rosario, additional, Righi, Rossana, additional, Raso, Barbara, additional, Civolani, Alessandro, additional, Muzi, Maria Cristina, additional, di Natale, Manuela, additional, Varriale, Luigia, additional, Gasperini, Daniela, additional, Nuzzi, Maria Cristina, additional, Cellamare, Angelo, additional, Casieri, Paola, additional, Busuito, Rosa, additional, Ceccarini, Caterina, additional, Cesarano, Carla, additional, Privitera, Orsola, additional, Melani, Daniela, additional, Menozzi, Cristina, additional, Falcinelli, Cristina, additional, Calabrese, Olga, additional, Battaglia, Paola, additional, Tanzariello, Antonella, additional, Stampalija, Tamara, additional, Ardisia, Carmela, additional, Gasparini, Paolo, additional, Benn, Peter, additional, and Novelli, Antonio, additional

Published
2022
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5. Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants

Author

Perego, Sara, primary, Alari, Valentina, additional, Pietra, Gianluca, additional, Lamperti, Andrea, additional, Vimercati, Alessandro, additional, Camporeale, Nicole, additional, Garzo, Maria, additional, Cogliati, Francesca, additional, Milani, Donatella, additional, Vignoli, Aglaia, additional, Peron, Angela, additional, Larizza, Lidia, additional, Pizzorusso, Tommaso, additional, and Russo, Silvia, additional

Published
2022
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6. 12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature

Author

Recalcati, Maria Paola, primary, Catusi, Ilaria, additional, Garzo, Maria, additional, Redaelli, Serena, additional, Massimello, Marta, additional, Maitz, Silvia Beatrice, additional, Gentile, Mattia, additional, Ponzi, Emanuela, additional, Orsini, Paola, additional, Zilio, Anna, additional, Montaldi, Annamaria, additional, Calò, Annapaola, additional, Capra, Anna Paola, additional, Briuglia, Silvana, additional, La Rosa, Maria Angela, additional, Grillo, Lucia, additional, Romano, Corrado, additional, Bianca, Sebastiano, additional, Malacarne, Michela, additional, Busè, Martina, additional, Piccione, Maria, additional, and Larizza, Lidia, additional

Published
2022
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7. 8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature

Author

Catusi, Ilaria, primary, Garzo, Maria, additional, Capra, Anna Paola, additional, Briuglia, Silvana, additional, Baldo, Chiara, additional, Canevini, Maria Paola, additional, Cantone, Rachele, additional, Elia, Flaviana, additional, Forzano, Francesca, additional, Galesi, Ornella, additional, Grosso, Enrico, additional, Malacarne, Michela, additional, Peron, Angela, additional, Romano, Corrado, additional, Saccani, Monica, additional, Larizza, Lidia, additional, and Recalcati, Maria Paola, additional

Published
2021
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8. Positive Predictive Values and Outcomes for Uninformative Cell-Free DNA Tests: An Italian Multicentric Cytogenetic and Cytogenomic Audit of DiagnOstic Testing (ICARO Study)

Author

Grati, Francesca Romana, Bestetti, Ilaria, de Siero, Daria, Malvestiti, Francesca, Villa, Nicoletta, Sala, Elena, Crosti, Francesca, Parisi, Valentina, Nardone, Anna Maria, Di Giacomo, Gianluca, Pettinari, Antonella, Tortora, Giada, Montaldi, Annamaria, Calò, Annapaola, Saccilotto, Donatella, Zanchetti, Sara, Celli, Paola, Guerneri, Silvana, Silipigni, Rosamaria, Cardarelli, Laura, Lippi, Elisabetta, Cavani, Simona, Malacarne, Michela, Genesio, Rita, Beltrami, Nicola, Pittalis, Maria Carla, Desiderio, Laura, Gentile, Mattia, Ficarella, Romina, Recalcati, Maria Paola, Catusi, Ilaria, Garzo, Maria, Miele, Lorena, Corti, Cecilia, Ghezzo, Sara, Bertini, Veronica, Cambi, Francesca, Valetto, Angelo, Facchinetti, Barbara, Bernardini, Laura, Capalbo, Anna, Balducci, Federica, Pelo, Elisabetta, Minuti, Barbara, Pescucci, Chiara, Giuliani, Costanza, Renieri, Alessandra, Longo, Ilaria, Tita, Rossella, Castello, Giuseppe, Casalone, Rosario, Righi, Rossana, Raso, Barbara, Civolani, Alessandro, Muzi, Maria Cristina, di Natale, Manuela, Varriale, Luigia, Gasperini, Daniela, Nuzzi, Maria Cristina, Cellamare, Angelo, Casieri, Paola, Busuito, Rosa, Ceccarini, Caterina, Cesarano, Carla, Privitera, Orsola, Melani, Daniela, Menozzi, Cristina, Falcinelli, Cristina, Calabrese, Olga, Battaglia, Paola, Tanzariello, Antonella, Stampalija, Tamara, Ardisia, Carmela, Gasparini, Paolo, Benn, Peter, and Novelli, Antonio

Abstract

(Abstracted from Prenat Diagn2022;42:1575–1586Methods for diagnosis of genetic abnormalities have recently undergone substantial improvement. Noninvasive prenatal testing (NIPT) is performed early in pregnancy, typically at the end of the first trimester using cell-free DNA (cfDNA) to identify 3 commonly occurring trisomies (13, 18, and 21).

Published
2023
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9. Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases

Author

Redaelli, Serena, primary, Conconi, Donatella, additional, Villa, Nicoletta, additional, Sala, Elena, additional, Crosti, Francesca, additional, Corti, Cecilia, additional, Catusi, Ilaria, additional, Garzo, Maria, additional, Romitti, Lorenza, additional, Martinoli, Emanuela, additional, Patrizi, Antonella, additional, Malgara, Roberta, additional, Recalcati, Maria Paola, additional, Dalprà, Leda, additional, Lavitrano, Marialuisa, additional, Riva, Paola, additional, Roversi, Gaia, additional, and Bentivegna, Angela, additional

Published
2020
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10. Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate

Author

Catusi, Ilaria, primary, Recalcati, Maria Paola, additional, Bestetti, Ilaria, additional, Garzo, Maria, additional, Valtorta, Chiara, additional, Alfonsi, Melissa, additional, Alghisi, Alberta, additional, Cappellani, Stefania, additional, Casalone, Rosario, additional, Caselli, Rossella, additional, Ceccarini, Caterina, additional, Ceglia, Carlo, additional, Ciaschini, Anna Maria, additional, Coviello, Domenico, additional, Crosti, Francesca, additional, D'Aprile, Annamaria, additional, Fabretto, Antonella, additional, Genesio, Rita, additional, Giagnacovo, Marzia, additional, Granata, Paola, additional, Longo, Ilaria, additional, Malacarne, Michela, additional, Marseglia, Giuseppina, additional, Montaldi, Annamaria, additional, Nardone, Anna Maria, additional, Palka, Chiara, additional, Pecile, Vanna, additional, Pessina, Chiara, additional, Postorivo, Diana, additional, Redaelli, Serena, additional, Renieri, Alessandra, additional, Rigon, Chiara, additional, Tiberi, Fabiola, additional, Tonelli, Mariella, additional, Villa, Nicoletta, additional, Zilio, Anna, additional, Zuccarello, Daniela, additional, Novelli, Antonio, additional, Larizza, Lidia, additional, and Giardino, Daniela, additional

Published
2019
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11. Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutations

Author

Alari, Valentina, primary, Russo, Silvia, additional, Rovina, Davide, additional, Garzo, Maria, additional, Crippa, Milena, additional, Calzari, Luciano, additional, Scalera, Claudia, additional, Concolino, Daniela, additional, Castiglioni, Elisa, additional, Giardino, Daniela, additional, Prosperi, Ennio, additional, Finelli, Palma, additional, Gervasini, Cristina, additional, Gowran, Aoife, additional, and Larizza, Lidia, additional

Published
2019
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12. Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*)

Author

Alari, Valentina, primary, Russo, Silvia, additional, Rovina, Davide, additional, Gowran, Aoife, additional, Garzo, Maria, additional, Crippa, Milena, additional, Mazzanti, Laura, additional, Scalera, Claudia, additional, Prosperi, Ennio, additional, Giardino, Daniela, additional, Gervasini, Cristina, additional, Finelli, Palma, additional, Pompilio, Giulio, additional, and Larizza, Lidia, additional

Published
2018
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13. Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate.

Author

Catusi, Ilaria, Recalcati, Maria Paola, Bestetti, Ilaria, Garzo, Maria, Valtorta, Chiara, Alfonsi, Melissa, Alghisi, Alberta, Cappellani, Stefania, Casalone, Rosario, Caselli, Rossella, Ceccarini, Caterina, Ceglia, Carlo, Ciaschini, Anna Maria, Coviello, Domenico, Crosti, Francesca, D'Aprile, Annamaria, Fabretto, Antonella, Genesio, Rita, Giagnacovo, Marzia, and Granata, Paola

Subjects
DNA copy number variations, HUMAN genetics, BIOMARKERS, PHENOTYPES, HUMAN abnormalities, BIRTH size, ARNOLD-Chiari deformity
Abstract

Background: Chromosomal microarray analysis (CMA) is nowadays widely used in the diagnostic path of patients with clinical phenotypes. However, there is no ascertained evidence to date on how to assemble single/combined clinical categories of developmental phenotypic findings to improve the array‐based detection rate. Methods: The Italian Society of Human Genetics coordinated a retrospective study which included CMA results of 5,110 Italian patients referred to 17 genetics laboratories for variable combined clinical phenotypes. Results: Non‐polymorphic copy number variants (CNVs) were identified in 1512 patients (30%) and 615 (32%) present in 552 patients (11%) were classified as pathogenic. CNVs were analysed according to type, size, inheritance pattern, distribution among chromosomes, and association to known syndromes. In addition, the evaluation of the detection rate of clinical subgroups of patients allowed to associate dysmorphisms and/or congenital malformations combined with any other single clinical sign to an increased detection rate, whereas non‐syndromic neurodevelopmental signs and non‐syndromic congenital malformations to a decreased detection rate. Conclusions: Our retrospective study resulted in confirming the high detection rate of CMA and indicated new clinical markers useful to optimize their inclusion in the diagnostic and rehabilitative path of patients with developmental phenotypes. [ABSTRACT FROM AUTHOR]

Published
2020
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14. Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants

Author

Sara Perego, Valentina Alari, Gianluca Pietra, Andrea Lamperti, Alessandro Vimercati, Nicole Camporeale, Maria Garzo, Francesca Cogliati, Donatella Milani, Aglaia Vignoli, Angela Peron, Lidia Larizza, Tommaso Pizzorusso, Silvia Russo, Perego, Sara, Alari, Valentina, Pietra, Gianluca, Lamperti, Andrea, Vimercati, Alessandro, Camporeale, Nicole, Garzo, Maria, Cogliati, Francesca, Milani, Donatella, Vignoli, Aglaia, Peron, Angela, Larizza, Lidia, Pizzorusso, Tommaso, and Russo, Silvia

Subjects
Male, Neurons, early morphological neuronal biomarker, Organic Chemistry, Induced Pluripotent Stem Cells, iPSC-neuron, General Medicine, genotype-phenotype correlation, Settore BIO/09 - Fisiologia, mature neuron e-recordings, Catalysis, Computer Science Applications, Inorganic Chemistry, X inactivation mosaicism, Rett syndrome, Phenotype, hot-spot MECP2 pathogenic variant, Rett Syndrome, hot-spot MECP2 pathogenic variants, iPSC-neurons, early morphological neuronal biomarkers, Humans, Female, Physical and Theoretical Chemistry, Molecular Biology, Spectroscopy
Abstract

Rett syndrome caused by MECP2 variants is characterized by a heterogenous clinical spectrum accounted for in 60% of cases by hot-spot variants. Focusing on the most frequent variants, we generated in vitro iPSC-neurons from the blood of RTT girls with p.Arg133Cys and p.Arg255*, associated to mild and severe phenotype, respectively, and of an RTT male harboring the close to p.Arg255*, p.Gly252Argfs*7 variant. Truncated MeCP2 proteins were revealed by Western blot and immunofluorescence analysis. We compared the mutant versus control neurons at 42 days for morphological parameters and at 120 days for electrophysiology recordings, including girls’ isogenic clones. A precocious reduced morphological complexity was evident in neurons with truncating variants, while in p.Arg133Cys neurons any significant differences were observed in comparison with the isogenic wild-type clones. Reduced nuclear size and branch number show up as the most robust biomarkers. Patch clamp recordings on mature neurons allowed the assessment of cell biophysical properties, V-gated currents, and spiking pattern in the mutant and control cells. Immature spiking, altered cell capacitance, and membrane resistance of RTT neurons, were particularly pronounced in the Arg255* and Gly252Argfs*7 mutants. The overall results indicate that the specific markers of in vitro cellular phenotype mirror the clinical severity and may be amenable to drug testing for translational purposes.

Published
2022
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15. Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO Study)

Author

Francesca Romana Grati, Ilaria Bestetti, Daria De Siero, Francesca Malvestiti, Nicoletta Villa, Elena Sala, Francesca Crosti, Valentina Parisi, Anna Maria Nardone, Gianluca Di Giacomo, Antonella Pettinari, Giada Tortora, Annamaria Montaldi, Annapaola Calò, Donatella Saccilotto, Sara Zanchetti, Paola Celli, Silvana Guerneri, Rosamaria Silipigni, Laura Cardarelli, Elisabetta Lippi, Simona Cavani, Michela Malacarne, Rita Genesio, Nicola Beltrami, Maria Carla Pittalis, Laura Desiderio, Mattia Gentile, Romina Ficarella, Maria Paola Recalcati, Ilaria Catusi, Maria Garzo, Lorena Miele, Cecilia Corti, Sara Ghezzo, Veronica Bertini, Francesca Cambi, Angelo Valetto, Barbara Facchinetti, Laura Bernardini, Anna Capalbo, Federica Balducci, Elisabetta Pelo, Barbara Minuti, Chiara Pescucci, Costanza Giuliani, Alessandra Renieri, Ilaria Longo, Rossella Tita, Giuseppe Castello, Rosario Casalone, Rossana Righi, Barbara Raso, Alessandro Civolani, Maria Cristina Muzi, Manuela di Natale, Luigia Varriale, Daniela Gasperini, Maria Cristina Nuzzi, Angelo Cellamare, Paola Casieri, Rosa Busuito, Caterina Ceccarini, Carla Cesarano, Orsola Privitera, Daniela Melani, Cristina Menozzi, Cristina Falcinelli, Olga Calabrese, Paola Battaglia, Antonella Tanzariello, Tamara Stampalija, Carmela Ardisia, Paolo Gasparini, Peter Benn, Antonio Novelli, Grati, Francesca Romana, Bestetti, Ilaria, De Siero, Daria, Malvestiti, Francesca, Villa, Nicoletta, Sala, Elena, Crosti, Francesca, Parisi, Valentina, Nardone, Anna Maria, Di Giacomo, Gianluca, Pettinari, Antonella, Tortora, Giada, Montaldi, Annamaria, Calò, Annapaola, Saccilotto, Donatella, Zanchetti, Sara, Celli, Paola, Guerneri, Silvana, Silipigni, Rosamaria, Cardarelli, Laura, Lippi, Elisabetta, Cavani, Simona, Malacarne, Michela, Genesio, Rita, Beltrami, Nicola, Pittalis, Maria Carla, Desiderio, Laura, Gentile, Mattia, Ficarella, Romina, Recalcati, Maria Paola, Catusi, Ilaria, Garzo, Maria, Miele, Lorena, Corti, Cecilia, Ghezzo, Sara, Bertini, Veronica, Cambi, Francesca, Valetto, Angelo, Facchinetti, Barbara, Bernardini, Laura, Capalbo, Anna, Balducci, Federica, Pelo, Elisabetta, Minuti, Barbara, Pescucci, Chiara, Giuliani, Costanza, Renieri, Alessandra, Longo, Ilaria, Tita, Rossella, Castello, Giuseppe, Casalone, Rosario, Righi, Rossana, Raso, Barbara, Civolani, Alessandro, Muzi, Maria Cristina, di Natale, Manuela, Varriale, Luigia, Gasperini, Daniela, Nuzzi, Maria Cristina, Cellamare, Angelo, Casieri, Paola, Busuito, Rosa, Ceccarini, Caterina, Cesarano, Carla, Privitera, Orsola, Melani, Daniela, Menozzi, Cristina, Falcinelli, Cristina, Calabrese, Olga, Battaglia, Paola, Tanzariello, Antonella, Stampalija, Tamara, Ardisia, Carmela, Gasparini, Paolo, Benn, Peter, and Novelli, Antonio

Subjects
cfDNAtesting, Obstetrics and Gynecology, Genetics (clinical)
Abstract

Objectives: To establish the positive predictive values (PPV) of cfDNA testing based on data from a nationwide survey of independent clinical cytogenetics laboratories. Methods: Prenatal diagnostic test results obtained by Italian laboratories between 2013 and March 2020 were compiled for women with positive non-invasive prenatal tests (NIPT), without an NIPT result, and cases where there was sex discordancy between the NIPT and ultrasound. PPV and other summary data were reviewed. Results: Diagnostic test results were collected for 1327 women with a positive NIPT. The highest PPVs were for Trisomy (T) 21 (624/671, 93%) and XYY (26/27, 96.3%), while rare autosomal trisomies (9/47, 19.1%) and recurrent microdeletions (8/55, 14.5%) had the lowest PPVs. PPVs for T21, T18, and T13 were significantly higher when diagnostic confirmation was carried out on chorionic villi (97.5%) compared to amniotic fluid (89.5%) (p < 0.001). In 19/139 (13.9%), of no result cases, a cytogenetic abnormality was detected. Follow-up genetic testing provided explanations for 3/6 cases with a fetal sex discordancy between NIPT and ultrasound. Conclusions: NIPT PPVs differ across the conditions screened and the tissues studied in diagnostic testing. This variability, issues associated with fetal sex discordancy, and no results, illustrate the importance of pre- and post-test counselling.

Published
2022

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