Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1
Isabel Ochando,1,2 Melanie Cristine Alonzo Martínez,3 Ana María Serrano,3 Antonio Urbano,1 Eduardo Cazorla,3 Dolores Calvo,4 Joaquín Rueda1,2 1Genetics Unit, Unidad de Genética, Hospital Clínica Vistahermosa, Alicante, Spain; 2Departamento de Hi...
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| Format: | Article |
| Language: | English |
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Dove Medical Press
2018-07-01
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| Series: | The Application of Clinical Genetics |
| Subjects: | |
| Online Access: | https://www.dovepress.com/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-a-de--peer-reviewed-article-TACG |
| _version_ | 1818993759830933504 |
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| author | Ochando I Alonzo Martínez MC Serrano AM Urbano A Cazorla E Calvo D Rueda J |
| author_facet | Ochando I Alonzo Martínez MC Serrano AM Urbano A Cazorla E Calvo D Rueda J |
| author_sort | Ochando I |
| collection | DOAJ |
| description | Isabel Ochando,1,2 Melanie Cristine Alonzo Martínez,3 Ana María Serrano,3 Antonio Urbano,1 Eduardo Cazorla,3 Dolores Calvo,4 Joaquín Rueda1,2 1Genetics Unit, Unidad de Genética, Hospital Clínica Vistahermosa, Alicante, Spain; 2Departamento de Histología y Anatomía, Universidad Miguel Hernández, Alicante, Spain; 3Department of Obstetrics and Gynecology, Servicio de Ginecología y Obstetricia, Hospital Universitario de Torrevieja, Alicante, Spain; 4Emergency Laboratory, Laboratorio Urgencias, Hospital Clínico Universitario, Valladolid, Spain Abstract: Reported cases of distal 15q interstitial duplications are uncommon and do not result in a recognizable pattern of abnormalities. Some studies report prenatal overgrowth, while others describe growth retardation. We present molecular cytogenetic characterization of a 14 Mb interstitial duplication, encompassing 81 Online Mendelian Inheritance in Man (OMIM) genes, in a fetus with single umbilical artery and short limbs. We propose that growth restriction, previously described and present in our patient, may be due to duplication of a gene or genes contained in the 15q24 region. Keywords: distal 15q trisomy, prenatal diagnosis, short limbs |
| first_indexed | 2024-12-20T20:47:10Z |
| format | Article |
| id | doaj.art-87ab8ca214e24755bce361163efafcc5 |
| institution | Directory Open Access Journal |
| issn | 1178-704X |
| language | English |
| last_indexed | 2024-12-20T20:47:10Z |
| publishDate | 2018-07-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | The Application of Clinical Genetics |
| spelling | doaj.art-87ab8ca214e24755bce361163efafcc52022-12-21T19:27:01ZengDove Medical PressThe Application of Clinical Genetics1178-704X2018-07-01Volume 11778039118Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1Ochando IAlonzo Martínez MCSerrano AMUrbano ACazorla ECalvo DRueda JIsabel Ochando,1,2 Melanie Cristine Alonzo Martínez,3 Ana María Serrano,3 Antonio Urbano,1 Eduardo Cazorla,3 Dolores Calvo,4 Joaquín Rueda1,2 1Genetics Unit, Unidad de Genética, Hospital Clínica Vistahermosa, Alicante, Spain; 2Departamento de Histología y Anatomía, Universidad Miguel Hernández, Alicante, Spain; 3Department of Obstetrics and Gynecology, Servicio de Ginecología y Obstetricia, Hospital Universitario de Torrevieja, Alicante, Spain; 4Emergency Laboratory, Laboratorio Urgencias, Hospital Clínico Universitario, Valladolid, Spain Abstract: Reported cases of distal 15q interstitial duplications are uncommon and do not result in a recognizable pattern of abnormalities. Some studies report prenatal overgrowth, while others describe growth retardation. We present molecular cytogenetic characterization of a 14 Mb interstitial duplication, encompassing 81 Online Mendelian Inheritance in Man (OMIM) genes, in a fetus with single umbilical artery and short limbs. We propose that growth restriction, previously described and present in our patient, may be due to duplication of a gene or genes contained in the 15q24 region. Keywords: distal 15q trisomy, prenatal diagnosis, short limbshttps://www.dovepress.com/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-a-de--peer-reviewed-article-TACGDistal 15q trisomyprenatal diagnosisshort limbs |
| spellingShingle | Ochando I Alonzo Martínez MC Serrano AM Urbano A Cazorla E Calvo D Rueda J Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1 The Application of Clinical Genetics Distal 15q trisomy prenatal diagnosis short limbs |
| title | Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1 |
| title_full | Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1 |
| title_fullStr | Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1 |
| title_full_unstemmed | Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1 |
| title_short | Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1 |
| title_sort | prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24 3 q26 1 |
| topic | Distal 15q trisomy prenatal diagnosis short limbs |
| url | https://www.dovepress.com/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-a-de--peer-reviewed-article-TACG |
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