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Your search keyword '"Morizio, Elisena"' showing total 11 results
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11 results on '"Morizio, Elisena"'

5. Discovering a familial Xp11.4 microduplication: Does the mother matter?

Author

Calabrese Giuseppe, Chiarelli Francesco, Paolo Guanciali Franchi, Morizio Elisena, Matricardi Sara, Stefania De Marco, Chiarapalka, Edoardo Errichiello, Alfonsi Melissa, and Mohn Angelika

Subjects
0301 basic medicine, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Chromosome, Biology, medicine.disease, Phenotype, Short stature, X-inactivation, 03 medical and health sciences, 030104 developmental biology, Gene duplication, medicine, Autism, CASK, medicine.symptom, Genetics (clinical), X chromosome
Abstract

Interstitial duplications of the short arm of the X chromosome have been rarely described, especially in males. Usually boys present mental retardation, multiple congenital abnormalities and short stature. We describe two sons one with a 2q37.3 deletion and a Xp11.4 duplication and the other with Xp11.4 duplication only, identified by array-CGH. They both presented a phenotype characterized by poor growth, mild facial dysmorphisms, autism and developmental delay. The 2q37.3 identified chromosomal anomaly was inherited from the healthy father and included approximately 8 known genes, while the Xp11.4 duplication resulted inherited from the healthy mother and involved 13 known genes. Of these TSPAN7 and CASK, localized on Xp11.4, genes are of special interest. The alteration on the X chromosome could be more related to the clinical feature presented by the two brothers, while the anomaly on the chromosome 2 is more likely a polymorphism or might influence the phenotype correlated to the Xp11.4 duplication. The healthy phenotype of the mother could be explained by X chromosome inactivation (XCI) phenomenon.

Published
2018

6. Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence?

Author

Tumini, Stefano, primary, Alfonsi, Melissa, additional, Carinci, Silvia, additional, Morizio, Elisena, additional, Antonucci, Ivana, additional, Gatta, Valentina, additional, Lisi, Gabriele, additional, Lelli Chiesa, Pierluigi, additional, Calabrese, Giuseppe, additional, Stuppia, Liborio, additional, and Palka, Chiara, additional

Published
2019
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7. Discovering a familial Xp11.4 microduplication: Does the mother matter?

Author

Palka, Chiara, primary, De Marco, Stefania, additional, Alfonsi, Melissa, additional, Matricardi, Sara, additional, Errichiello, Edoardo, additional, Morizio, Elisena, additional, Franchi, Paolo Guanciali, additional, Calabrese, Giuseppe, additional, Mohn, Angelika, additional, and Chiarelli, Francesco, additional

Published
2018
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9. Aneuploidy screening using circulating fetal cells in maternal blood by dual‐probe FISH protocol: a prospective feasibility study on a series of 172 pregnant women

Author

Calabrese, Giuseppe, primary, Fantasia, Donatella, additional, Alfonsi, Melissa, additional, Morizio, Elisena, additional, Celentano, Claudio, additional, Guanciali Franchi, Paolo, additional, Sabbatinelli, Giulia, additional, Palka, Chiara, additional, Benn, Peter, additional, and Sitar, Gianmaria, additional

Published
2016
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11. Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report.

Author

Dell'Edera, Domenico, Allegretti, Arianna, Ventura, Mario, Mercuri, Ludovica, Mitidieri, Angela, Cuscianna, Giacinto, Epifania, Annunziata Anna, Morizio, Elisena, Alfonsi, Melissa, and Guanciali-Franchi, Paolo

Abstract

Background: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (Online Mendelian Inheritance in Man [OMIM] #277000) is a congenital condition characterized by the total or partial agenesis of vagina and uterus. Agenesis can be isolated (MRKH 1) or associated with other renal, vertebral or cardiac defects (MRKH 2).Case Presentation: In this paper, we report a case of a Caucasian patient showing the clinical signs associated with MRKH. Array-based comparative genomic hybridization (a-CGH) analysis revealed a microduplication of approximately 3.01 megabases (Mb) located on the long arm of chromosome 22 (22q11.21). Microduplications affecting the 22q11.21 region have been shown to be associated with MRKH syndrome and Müllerian aplasia. The phenotype of patients with 22q11.2 duplication (OMIM #608363) appears extremely variable, ranging from apparently normal to mild learning difficulties or with multiple defects, sharing features with DiGeorge/velocardiofacial (DGS/VCFS) syndrome.Conclusions: The altered gene expression together with other genetic, nongenetic, epigenetic or environmental factors can cause the extremely variable phenotype in patients carrying such duplication. Therefore, we can consider MRKH syndrome to be one of the clinical features of DGS/VCFS syndrome. [ABSTRACT FROM AUTHOR]

Published
2021
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