Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report
Abstract Background Turner syndrome is a genetic disorder that affects women. It is caused by an absent or incomplete X chromosome, which can be presented in mosaicism or not. There are 12 cases of Turner syndrome patients who present structural alterations in autosomal chromosomes. Case presentatio...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2020-11-01
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| Series: | Molecular Cytogenetics |
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| Online Access: | http://link.springer.com/article/10.1186/s13039-020-00515-0 |
| _version_ | 1811293326891024384 |
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| author | Paola E. Leone Verónica Yumiceba Ariana Jijón-Vergara Andy Pérez-Villa Isaac Armendáriz-Castillo Jennyfer M. García-Cárdenas Santiago Guerrero Patricia Guevara-Ramírez Andrés López-Cortés Ana K. Zambrano Jesús M. Hernández-Rivas Juan Luis García César Paz-y-Miño |
| author_facet | Paola E. Leone Verónica Yumiceba Ariana Jijón-Vergara Andy Pérez-Villa Isaac Armendáriz-Castillo Jennyfer M. García-Cárdenas Santiago Guerrero Patricia Guevara-Ramírez Andrés López-Cortés Ana K. Zambrano Jesús M. Hernández-Rivas Juan Luis García César Paz-y-Miño |
| author_sort | Paola E. Leone |
| collection | DOAJ |
| description | Abstract Background Turner syndrome is a genetic disorder that affects women. It is caused by an absent or incomplete X chromosome, which can be presented in mosaicism or not. There are 12 cases of Turner syndrome patients who present structural alterations in autosomal chromosomes. Case presentation The present case report describes a patient with a reciprocal, maternally inherited translocation between chromosomes 2 and 12 with a mosaicism of X monosomy 45,X,t(2;12)(p13;q24)[95]/46,XX,t(2;12)(p13;q24)[5]. Through genetic mapping arrays, altered genes in the patient were determined within the 23 chromosome pairs. These genes were associated with the patient’s clinical features using a bioinformatics tool. Conclusion To our knowledge, this is the first case in which a translocation (2;12) is reported in a patient with Turner syndrome and confirmed by conventional cytogenetics, FISH and molecular genetics. Clinical features of our patient are closely related with the loss of one X chromosome, however mild intellectual disability can be likely explained by autosomal genes. The presence of familial translocations was a common finding, thus emphasizing the need for familiar testing for further genetic counselling. |
| first_indexed | 2024-04-13T04:59:43Z |
| format | Article |
| id | doaj.art-2c3597f4f75d4d4f90fb70e2316006d5 |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-04-13T04:59:43Z |
| publishDate | 2020-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj.art-2c3597f4f75d4d4f90fb70e2316006d52022-12-22T03:01:22ZengBMCMolecular Cytogenetics1755-81662020-11-011311910.1186/s13039-020-00515-0Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case reportPaola E. Leone0Verónica Yumiceba1Ariana Jijón-Vergara2Andy Pérez-Villa3Isaac Armendáriz-Castillo4Jennyfer M. García-Cárdenas5Santiago Guerrero6Patricia Guevara-Ramírez7Andrés López-Cortés8Ana K. Zambrano9Jesús M. Hernández-Rivas10Juan Luis García11César Paz-y-Miño12Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTECentro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTECentro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTECentro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTECentro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTECentro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTECentro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTECentro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTECentro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTECentro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTEServicio de Hematología, Hospital Universitario de Salamanca, Universidad de SalamancaMolecular Medicine Unit, Department of Medicine, Biomedical Research Institute of Salamanca (IBSAL)Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTEAbstract Background Turner syndrome is a genetic disorder that affects women. It is caused by an absent or incomplete X chromosome, which can be presented in mosaicism or not. There are 12 cases of Turner syndrome patients who present structural alterations in autosomal chromosomes. Case presentation The present case report describes a patient with a reciprocal, maternally inherited translocation between chromosomes 2 and 12 with a mosaicism of X monosomy 45,X,t(2;12)(p13;q24)[95]/46,XX,t(2;12)(p13;q24)[5]. Through genetic mapping arrays, altered genes in the patient were determined within the 23 chromosome pairs. These genes were associated with the patient’s clinical features using a bioinformatics tool. Conclusion To our knowledge, this is the first case in which a translocation (2;12) is reported in a patient with Turner syndrome and confirmed by conventional cytogenetics, FISH and molecular genetics. Clinical features of our patient are closely related with the loss of one X chromosome, however mild intellectual disability can be likely explained by autosomal genes. The presence of familial translocations was a common finding, thus emphasizing the need for familiar testing for further genetic counselling.http://link.springer.com/article/10.1186/s13039-020-00515-0Turner syndromeReciprocal translocationCytogeneticsGenetic mapping arraysFISH |
| spellingShingle | Paola E. Leone Verónica Yumiceba Ariana Jijón-Vergara Andy Pérez-Villa Isaac Armendáriz-Castillo Jennyfer M. García-Cárdenas Santiago Guerrero Patricia Guevara-Ramírez Andrés López-Cortés Ana K. Zambrano Jesús M. Hernández-Rivas Juan Luis García César Paz-y-Miño Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report Molecular Cytogenetics Turner syndrome Reciprocal translocation Cytogenetics Genetic mapping arrays FISH |
| title | Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report |
| title_full | Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report |
| title_fullStr | Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report |
| title_full_unstemmed | Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report |
| title_short | Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report |
| title_sort | cytogenetic and genomic analysis of a patient with turner syndrome and t 2 12 a case report |
| topic | Turner syndrome Reciprocal translocation Cytogenetics Genetic mapping arrays FISH |
| url | http://link.springer.com/article/10.1186/s13039-020-00515-0 |
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