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Your search keyword '"Molinatto, C."' showing total 2 results
Start Over Author "Molinatto, C." Topic comparative genomic hybridization
2 results on '"Molinatto, C."'

1. Eyebrow anomalies as a diagnostic sign of genomic disorders.

Author

Silengo, M., Belligni, E., Molinatto, C., Baldassare, G., Biamino, E., Chiesa, N., Zuffardi, O., Girirajan, S., Eichler, E. E., and Ferrero, G. B.

Subjects
GENETIC disorders, EYEBROWS, HUMAN genome, COMPARATIVE genomic hybridization, LEARNING disabilities, DEVELOPMENTAL delay
Abstract

Silengo M, Belligni E, Molinatto C, Baldassare G, Biamino E, Chiesa N, Zuffardi O, Girirajan S, Eichler EE, Ferrero GB. Eyebrow anomalies as a diagnostic sign of genomic disorders. Microdeletions and microduplications in the human genome, termed genomic disorders, contribute to a high proportion of human multisystemic neurodevelopmental diseases and are detected by array-based comparative genomic hybridization (aCGH). In general, most genomic disorders are associated with craniofacial and skeletal features and behavioural abnormalities, in addition to learning disability and developmental delay (LD/DD). Specifically, recognition of a characteristic ‘acial gestalt’ has been the key to distinguish one genomic disorder from the other. Here, we report our experience concerning the relevance of abnormal eyebrow pattern as a diagnostic indicator of specific genomic disorders. [ABSTRACT FROM AUTHOR]

Published
2010
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2. Clinical Significance of Rare Copy Number Variations in Epilepsy A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization

Author

Matteo Benelli, Michela Malacarne, Vincenzo Belcastro, Amedeo Bianchi, Simona Cavani, Marco Fichera, Giuseppe Gobbi, Maria Luigia Cavaliere, Antonio Falace, Maria Piccione, Giovanni Battista Ferrero, Stefania Gimelli, Maurizio Elia, Domenico A. Coviello, Federico Zara, Elena Freri, Franca Dagna Bricarelli, Marianna Pezzella, Alberto Magi, Monica Traverso, Antonietta Coppola, Angela Robbiano, Roberta Galasso, Margherita Silengo, Edoardo Ferlazzo, Carlo Minetti, Orsetta Zuffardi, Elisabetta Gazzerro, Cristina Molinatto, Roberta Paravidino, Salvatore Striano, Pasquale Striano, Striano, P., Coppola, A., Paravidino, R., Malacarne, M., Gimelli, S., Robbiano, A., Traverso, M., Pezzella, M., Belcastro, V., Bianchi, A., Elia, M., Falace, A., Gazzerro, E., Ferlazzo, E., Freri, E., Galasso, R., Gobbi, G., Molinatto, C., Cavani, S., Zuffardi, O., Striano, S., Ferrero, G., Silengo, M., Cavaliere, M., Benelli, M., Magi, A., Piccione, M., Dagna Bricarelli, F., Coviello, D., Fichera, M., Minetti, C., Zara, F., Striano, Salvatore, Ferrero, G. B., Cavaliere, M. L., Bricarelli, F. D., and Coviello, D. A.

Subjects
Male, Oncology, endocrine system diseases, Microarray, Gene Dosage, Preschool, Cohort Studies, Computational Biology, Diagnostic and Statistical Manual of Mental Disorders, Epilepsy, Bioinformatics, Polymerase Chain Reaction, Fluorescence, Intellectual Disability, Cohort Studies, Epilepsy, Settore MED/38 - Pediatria Generale E Specialistica, Gene Duplication, Prospective Studies, Copy-number variation, Age of Onset, Child, Prospective cohort study, In Situ Hybridization, Fluorescence, epidemiology/genetics, Nucleic Acid Hybridization, Polymerase Chain Reaction, Prospective Studies, Young Adult, Gene Rearrangement, Nucleic Acid Hybridization, Middle Aged, Control subjects, Magnetic Resonance Imaging, Diagnostic and Statistical Manual of Mental Disorders, genetics, Female, Gene Deletion, Gene Dosage, Gene Duplication, Gene Rearrangement, Genome-Wide Association Study, Humans, In Situ Hybridization, Italy, Rare Copy Number Variations, Epilepsy, Child, Preschool, Female, epidemiology/genetics, Italy, Adult, medicine.medical_specialty, Adolescent, Biology, Young Adult, Adolescent, Adult, Age of Onset, Aged, Child, Child, Arts and Humanities (miscellaneous), Intellectual Disability, Internal medicine, mental disorders, medicine, Humans, In patient, Clinical significance, epidemiology, Magnetic Resonance Imaging, Male, Microarray Analysis, Middle Aged, Nervous System Disease, Aged, Computational Biology, Microarray Analysis, medicine.disease, Settore MED/03 - Genetica Medica, Neurology (clinical), Nervous System Diseases, Gene Deletion, Genome-Wide Association Study, Comparative genomic hybridization
Abstract

Objective To perform an extensive search for genomic rearrangements by microarray-based comparative genomic hybridization in patients with epilepsy. Design Prospective cohort study. Setting Epilepsy centers in Italy. Patients Two hundred seventy-nine patients with unexplained epilepsy, 265 individuals with nonsyndromic mental retardation but no epilepsy, and 246 healthy control subjects were screened by microarray-based comparative genomic hybridization. Main Outcomes Measures Identification of copy number variations (CNVs) and gene enrichment. Results Rare CNVs occurred in 26 patients (9.3%) and 16 healthy control subjects (6.5%) (P = .26). The CNVs identified in patients were larger (P = .03) and showed higher gene content (P = .02) than those in control subjects. The CNVs larger than 1 megabase (P = .002) and including more than 10 genes (P = .005) occurred more frequently in patients than in control subjects. Nine patients (34.6%) among those harboring rare CNVs showed rearrangements associated with emerging microdeletion or microduplication syndromes. Mental retardation and neuropsychiatric features were associated with rare CNVs (P = .004), whereas epilepsy type was not. The CNV rate in patients with epilepsy and mental retardation or neuropsychiatric features is not different from that observed in patients with mental retardation only. Moreover, significant enrichment of genes involved in ion transport was observed within CNVs identified in patients with epilepsy. Conclusions Patients with epilepsy show a significantly increased burden of large, rare, gene-rich CNVs, particularly when associated with mental retardation and neuropsychiatric features. The limited overlap between CNVs observed in the epilepsy group and those observed in the group with mental retardation only as well as the involvement of specific (ion channel) genes indicate a specific association between the identified CNVs and epilepsy. Screening for CNVs should be performed for diagnostic purposes preferentially in patients with epilepsy and mental retardation or neuropsychiatric features.

Published
2012

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