Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature
Only a few subjects carrying supernumerary marker chromosomes derived from 19 chromosome (sSMC(19)) have been described to date and for a small portion of them the genic content has been defined at the molecular level. We present seven new different sSMCs(19) identified in eight individuals, seven o...
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| Published in | European journal of medical genetics Vol. 61; no. 3; pp. 173 - 180 |
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| Main Authors | , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
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Elsevier Masson SAS
01.03.2018
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| Abstract | Only a few subjects carrying supernumerary marker chromosomes derived from 19 chromosome (sSMC(19)) have been described to date and for a small portion of them the genic content has been defined at the molecular level.
We present seven new different sSMCs(19) identified in eight individuals, seven of whom unrelated. The presence of the sSMC is associated with a clinical phenotype in five subjects, while the other three carriers, two of whom related, are normal. All sSMCs(19) have been characterized by means of conventional and molecular cytogenetics. We compare the sSMCs(19) carriers with a clinical phenotype to already described patients with gains (sSMCs or microduplications) of overlapping genomic regions with the aim to deepen the pathogenicity of the encountered imbalances and to assess the role of the involved genes on the phenotype. The present work supports the correlation between the gain of some chromosome 19 critical regions and specific phenotypes. |
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| AbstractList | Only a few subjects carrying supernumerary marker chromosomes derived from 19 chromosome (sSMC(19)) have been described to date and for a small portion of them the genic content has been defined at the molecular level.
We present seven new different sSMCs(19) identified in eight individuals, seven of whom unrelated. The presence of the sSMC is associated with a clinical phenotype in five subjects, while the other three carriers, two of whom related, are normal. All sSMCs(19) have been characterized by means of conventional and molecular cytogenetics. We compare the sSMCs(19) carriers with a clinical phenotype to already described patients with gains (sSMCs or microduplications) of overlapping genomic regions with the aim to deepen the pathogenicity of the encountered imbalances and to assess the role of the involved genes on the phenotype. The present work supports the correlation between the gain of some chromosome 19 critical regions and specific phenotypes. Only a few subjects carrying supernumerary marker chromosomes derived from 19 chromosome (sSMC(19)) have been described to date and for a small portion of them the genic content has been defined at the molecular level. We present seven new different sSMCs(19) identified in eight individuals, seven of whom unrelated. The presence of the sSMC is associated with a clinical phenotype in five subjects, while the other three carriers, two of whom related, are normal. All sSMCs(19) have been characterized by means of conventional and molecular cytogenetics. We compare the sSMCs(19) carriers with a clinical phenotype to already described patients with gains (sSMCs or microduplications) of overlapping genomic regions with the aim to deepen the pathogenicity of the encountered imbalances and to assess the role of the involved genes on the phenotype. The present work supports the correlation between the gain of some chromosome 19 critical regions and specific phenotypes.Only a few subjects carrying supernumerary marker chromosomes derived from 19 chromosome (sSMC(19)) have been described to date and for a small portion of them the genic content has been defined at the molecular level. We present seven new different sSMCs(19) identified in eight individuals, seven of whom unrelated. The presence of the sSMC is associated with a clinical phenotype in five subjects, while the other three carriers, two of whom related, are normal. All sSMCs(19) have been characterized by means of conventional and molecular cytogenetics. We compare the sSMCs(19) carriers with a clinical phenotype to already described patients with gains (sSMCs or microduplications) of overlapping genomic regions with the aim to deepen the pathogenicity of the encountered imbalances and to assess the role of the involved genes on the phenotype. The present work supports the correlation between the gain of some chromosome 19 critical regions and specific phenotypes. Only a few subjects carrying supernumerary marker chromosomes derived from 19 chromosome (sSMC(19)) have been described to date and for a small portion of them the genic content has been defined at the molecular level. We present seven new different sSMCs(19) identified in eight individuals, seven of whom unrelated. The presence of the sSMC is associated with a clinical phenotype in five subjects, while the other three carriers, two of whom related, are normal. All sSMCs(19) have been characterized by means of conventional and molecular cytogenetics. We compare the sSMCs(19) carriers with a clinical phenotype to already described patients with gains (sSMCs or microduplications) of overlapping genomic regions with the aim to deepen the pathogenicity of the encountered imbalances and to assess the role of the involved genes on the phenotype. The present work supports the correlation between the gain of some chromosome 19 critical regions and specific phenotypes. |
| Author | Giardino, Daniela Catusi, Ilaria Beltrami, Nicola Mattina, Teresa Varricchio, Aminta Nardone, Anna Maria Bonati, Maria Teresa Garzo, Maria Verri, Annapia Sajeva, Anna Villa, Nicoletta Larizza, Lidia Recalcati, Maria Paola Nalesso, Elisa Cardarelli, Laura Postorivo, Diana Mammi, Isabella Costa, Asia |
| Author_xml | – sequence: 1 givenname: Maria Paola surname: Recalcati fullname: Recalcati, Maria Paola email: p.recalcati@auxologico.it organization: Lab. di Citogenetica Medica e Amb. di Genetica Medica, IRCCS Istituto Auxologico Italiano, Milano, Italy – sequence: 2 givenname: Maria Teresa surname: Bonati fullname: Bonati, Maria Teresa organization: Lab. di Citogenetica Medica e Amb. di Genetica Medica, IRCCS Istituto Auxologico Italiano, Milano, Italy – sequence: 3 givenname: Nicola surname: Beltrami fullname: Beltrami, Nicola organization: L.C. Laboratori Campisi srl, Avola, SR, Italy – sequence: 4 givenname: Laura surname: Cardarelli fullname: Cardarelli, Laura organization: Laboratorio Analisi Citotest, Sarmeola di Rubano, PD, Italy – sequence: 5 givenname: Ilaria surname: Catusi fullname: Catusi, Ilaria organization: Lab. di Citogenetica Medica e Amb. di Genetica Medica, IRCCS Istituto Auxologico Italiano, Milano, Italy – sequence: 6 givenname: Asia surname: Costa fullname: Costa, Asia organization: Genetica Medica, Università di Catania, Italy – sequence: 7 givenname: Maria surname: Garzo fullname: Garzo, Maria organization: Lab. di Citogenetica Medica e Amb. di Genetica Medica, IRCCS Istituto Auxologico Italiano, Milano, Italy – sequence: 8 givenname: Isabella surname: Mammi fullname: Mammi, Isabella organization: Amb. Genetica, Ospedale di Dolo, ULSS13 Dolo, Mirano, VE, Italy – sequence: 9 givenname: Teresa orcidid: 0000-0001-6143-6682 surname: Mattina fullname: Mattina, Teresa organization: Genetica Medica, Università di Catania, Italy – sequence: 10 givenname: Elisa surname: Nalesso fullname: Nalesso, Elisa organization: Laboratorio Analisi Citotest, Sarmeola di Rubano, PD, Italy – sequence: 11 givenname: Anna Maria surname: Nardone fullname: Nardone, Anna Maria organization: U.O.C. Laboratorio di Genetica Medica Policlinico Tor Vergata, Roma, Italy – sequence: 12 givenname: Diana surname: Postorivo fullname: Postorivo, Diana organization: U.O.C. Laboratorio di Genetica Medica Policlinico Tor Vergata, Roma, Italy – sequence: 13 givenname: Anna surname: Sajeva fullname: Sajeva, Anna organization: Genetica Clinica Pediatrica, Fondazione Monza e Brianza per la Mamma e il suo Bambino (FMBBM), Italy – sequence: 14 givenname: Aminta surname: Varricchio fullname: Varricchio, Aminta organization: Laboratorio Montevergine-Malzoni, Torrette di Mercogliano, Avellino, Italy – sequence: 15 givenname: Annapia surname: Verri fullname: Verri, Annapia organization: IRCCS Istituto Neurologico Nazionale C. Mondino, Pavia, Italy – sequence: 16 givenname: Nicoletta orcidid: 0000-0002-4439-9880 surname: Villa fullname: Villa, Nicoletta organization: US Genetica Medica, Ospedale San Gerardo, ASST di Monza, Italy – sequence: 17 givenname: Lidia surname: Larizza fullname: Larizza, Lidia organization: Lab. di Citogenetica Medica e Amb. di Genetica Medica, IRCCS Istituto Auxologico Italiano, Milano, Italy – sequence: 18 givenname: Daniela surname: Giardino fullname: Giardino, Daniela organization: Lab. di Citogenetica Medica e Amb. di Genetica Medica, IRCCS Istituto Auxologico Italiano, Milano, Italy |
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| Cites_doi | 10.1097/MCD.0b013e32833bff06 10.1159/000138902 10.1002/ajmg.a.34196 10.1038/gim.2012.78 10.1038/ejhg.2015.51 10.1186/s12881-014-0132-3 10.1136/jmg.2009.066910 10.1007/s13353-011-0033-5 10.1097/MCD.0b013e32834e7f9f 10.2174/138920210793176029 10.1097/MCD.0b013e328348d860 10.1016/j.ejmg.2008.01.003 10.1097/GIM.0b013e3181e59291 10.1038/oby.2009.298 |
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| Keywords | Array-CGH Supernumerary marker chromosomes derived from chromosome 19 Copy number variations Chromosome 19 duplications |
| Language | English |
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| Snippet | Only a few subjects carrying supernumerary marker chromosomes derived from 19 chromosome (sSMC(19)) have been described to date and for a small portion of them... |
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| SubjectTerms | Array-CGH Chromosome 19 duplications Copy number variations Supernumerary marker chromosomes derived from chromosome 19 |
| Title | Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature |
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