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Your search keyword '"Pecile, Vanna"' showing total 9 results
Start Over Author "Pecile, Vanna" Publisher elsevier bv
9 results on '"Pecile, Vanna"'

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

Author

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

Published
2020
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3. Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

Author

Gandin, Ilaria, primary, Faletra, Flavio, additional, Faletra, Francesca, additional, Carella, Massimo, additional, Pecile, Vanna, additional, Ferrero, Giovanni B., additional, Biamino, Elisa, additional, Palumbo, Pietro, additional, Palumbo, Orazio, additional, Bosco, Paolo, additional, Romano, Corrado, additional, Belcaro, Chiara, additional, Vozzi, Diego, additional, and d’Adamo, Adamo P., additional

Published
2015
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4. Good survival outcome of metastatic SDH-deficient gastrointestinal stromal tumors harboring SDHA mutations

Author

Gandin, Ilaria, primary, Faletra, Flavio, additional, Faletra, Francesca, additional, Carella, Massimo, additional, Pecile, Vanna, additional, Ferrero, Giovanni B., additional, Biamino, Elisa, additional, Palumbo, Pietro, additional, Palumbo, Orazio, additional, Bosco, Paolo, additional, Romano, Corrado, additional, Belcaro, Chiara, additional, Vozzi, Diego, additional, and d’Adamo, Adamo P., additional

Published
2015
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7. Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: Cooperative study of 19 Italian laboratories

Author

Dalprà, Leda, primary, Giardino, Daniela, additional, Finelli, Palma, additional, Corti, Cecilia, additional, Valtorta, Chiara, additional, Guerneri, Silvana, additional, Ilardi, Patrizia, additional, Fortuna, Renato, additional, Coviello, Domenico, additional, Nocera, Gianfranco, additional, Amico, Francesco Paolo, additional, Martinoli, Emanuela, additional, Sala, Elena, additional, Villa, Nicoletta, additional, Crosti, Francesca, additional, Chiodo, Francamaria, additional, di Cantogno, Ludovica Verdun, additional, Savin, Elisa, additional, Croci, Gianfranco, additional, Franchi, Fabrizia, additional, Venti, Giovanna, additional, Donti, Emilio, additional, Migliori, Valeria, additional, Pettinari, Antonella, additional, Bonifacio, Stefania, additional, Centrone, Claudia, additional, Torricelli, Francesca, additional, Rossi, Simona, additional, Simi, Paolo, additional, Granata, Paola, additional, Casalone, Rosario, additional, Lenzini, Elisabetta, additional, Artifoni, Lina, additional, Pecile, Vanna, additional, Barlati, Sergio, additional, Bellotti, Daniela, additional, Caufin, Daniele, additional, Police, Adalgisa, additional, Cavani, Simona, additional, Piombo, Giuseppe, additional, Pierluigi, Mauro, additional, and Larizza, Lidia, additional

Published
2005
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8. Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism

Author

Flavio Faletra, Paolo Gasparini, Vanna Pecile, Maria Santa Rocca, Raffaella Devescovi, Rocca, Maria Santa, Faletra, Flavio, Devescovi, Raffaella, Gasparini, Paolo, and Pecile, Vanna

Subjects
Male, Muscle Hypotonia, Developmental Disabilitie, Developmental Disabilities, Cryptorchidism, Deletion 2p23, DTNB, SNP array, Child, Preschool, Comparative Genomic Hybridization, Facies, Humans, Infant, Phenotype, Polymorphism, Single Nucleotide, Chromosome Deletion, Chromosomes, Human, Pair 2, Genetics, Genetics (clinical), Biology, Chromosomes, Genetic, medicine, Polymorphism, Dysmorphic facial features, Child, Preschool, Gtg banding, Chromosome, Single Nucleotide, General Medicine, Facie, Hypotonia, Pair 2, Chromosomal region, medicine.symptom, Human, Comparative genomic hybridization
Abstract

Deletions of the short arm of chromosome 2 are exceedingly rare and only nine cases involving regions from 2p23 to 2pter have been reported to date. Most of these deletions had only been analysed by GTG banding. Here, we report an interstitial de novo deletion resulting in a microdeletion of 3.9 Mb involving 2p23.2-p23.3 segment, detected by SNP-array analysis, in a 5 year-old boy showing hypotonia, over- weight, dysmorphic facial features and cryptorchidism. We compared the clinical features of the present case to previously described patients with deletions within this chromosomal region. Our case adds new information to the deletion of the distal part of chromosome 2p improving the knowledge on this rearrangement.

Published
2013
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9. Contribution of SNP arrays in diagnosis of deletion 2p11.2–p12

Author

Paolo Gasparini, Antonella Fabretto, Vanna Pecile, Maria Santa Rocca, Aldo Skabar, Flavio Faletra, Ombretta Carlet, Rocca, Maria Santa, Fabretto, Antonella, Faletra, Flavio, Carlet, Ombretta, Skabar, Aldo, Gasparini, Paolo, and Pecile, Vanna

Subjects
LRRTM1, Biology, Polymorphism, Single Nucleotide, Microdeletion 2p11.2-p12, SNP array analysis, Intellectual Disability, Genetics, medicine, SNP array analysi, Humans, SNP, Abnormalities, Multiple, SPG31, Child, Snp array analysis, Gene, Oligonucleotide Array Sequence Analysis, Sequence Deletion, Chromosome, Karyotype, General Medicine, Chromosomes, Human, Pair 2, Speech delay, REEP1, Female, medicine.symptom, Haploinsufficiency
Abstract

Deletions of the short arm of chromosome 2 are exceedingly rare, having been reported in few patients. Fur- thermore most cases with deletion in 2p11.2–p12 have been studied using standard karyotype and so it is not possible to delineate the precise size of deletions. Here, we describe a 9-year-old girl with a 9.4 Mb de novo interstitial deletion of region 2p11.2–p12 identified by SNP array analysis. The deleted region encompasses over 40 known genes, including LRRTM1, CTNNA2 and REEP1, haploinsuffi- ciency of which could explain some clinical features of this patient such as mental retardation, speech delay and gait abnormalities. A comparison of our case with previously reported patients who present deletions in 2p11.2–p12 was carried out. Our case adds new information to the deletion of 2p11.2–p12, improving the knowledge on this rearrangement.

Published
2012
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