Inv dup del(10q): Identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements
Objective: To present molecular cytogenetic characterization of an inverted duplication with terminal deletion of 10q, or inv dup del(10q) in a fetus with two concurrent chromosomal rearrangements. Materials, Methods and Results: A 39-year-old woman underwent amniocentesis at 20 weeks of gestation b...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2012-06-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S102845591200071X |
| _version_ | 1818345485609467904 |
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| author | Chih-Ping Chen Ming Chen Yi-Ning Su Jian-Pei Huang Gwo-Chin Ma Shun-Ping Chang Schu-Rern Chern Yu-Ting Chen Jun-Wei Su Chen-Chi Lee Dai-Dyi Town Wayseen Wang |
| author_facet | Chih-Ping Chen Ming Chen Yi-Ning Su Jian-Pei Huang Gwo-Chin Ma Shun-Ping Chang Schu-Rern Chern Yu-Ting Chen Jun-Wei Su Chen-Chi Lee Dai-Dyi Town Wayseen Wang |
| author_sort | Chih-Ping Chen |
| collection | DOAJ |
| description | Objective: To present molecular cytogenetic characterization of an inverted duplication with terminal deletion of 10q, or inv dup del(10q) in a fetus with two concurrent chromosomal rearrangements.
Materials, Methods and Results: A 39-year-old woman underwent amniocentesis at 20 weeks of gestation because of advanced maternal age. Amniocentesis revealed a der(10) with additional material at the end of the long arm of chromosome 10, a der(9) and a der(22). Parental karyotypes were normal. A de novo unbalanced complex chromosomal rearrangement (CCR) was diagnosed by conventional cytogenetics, but the breakpoints could not be defined. The pregnancy was subsequently terminated, and a malformed fetus was delivered with facial dysmorphism. Postnatal analysis of fetal tissues using spectral karyotyping, fluorescence in situ hybridization, multicolor banding, and array-comparative genomic hybridization identified an inv dup del(10q) with an inverted duplication of 10q25.1→q26.2 and a terminal deletion of 10q26.2→qter, and a balanced reciprocal translocation between chromosomes 9 and 22. Microsatellite analysis determined a paternal origin of the inv dup del(10q). The karyotype of the fetus was 46,XX,t(9;22)(p23;q13),der(10)del(10)(q26.2) dup(10)(q26.2q25.1)dn.
Conclusion: A de novo inv dup del(10q) can be associated with a concurrent de novo balanced reciprocal translocation and should be differentiated from an unbalanced CCR by molecular cytogenetic techniques. |
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| format | Article |
| id | doaj.art-5e1c186d9da74e67ab21772191582eb3 |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-12-13T17:03:07Z |
| publishDate | 2012-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-5e1c186d9da74e67ab21772191582eb32022-12-21T23:37:44ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592012-06-0151224525210.1016/j.tjog.2012.04.015Inv dup del(10q): Identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangementsChih-Ping Chen0Ming Chen1Yi-Ning Su2Jian-Pei Huang3Gwo-Chin Ma4Shun-Ping Chang5Schu-Rern Chern6Yu-Ting Chen7Jun-Wei Su8Chen-Chi Lee9Dai-Dyi Town10Wayseen Wang11Department of Medicine, Mackay Medical College, New Taipei City, TaiwanDepartment of Medical Research, Center for Medical Genetic, Changhua Christian Hospital, Changhua, TaiwanDepartment of Medical Genetics, National Taiwan University Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, Center for Medical Genetic, Changhua Christian Hospital, Changhua, TaiwanDepartment of Medical Research, Center for Medical Genetic, Changhua Christian Hospital, Changhua, TaiwanDepartment of Medical Research, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, Mackay Memorial Hospital, Taipei, TaiwanObjective: To present molecular cytogenetic characterization of an inverted duplication with terminal deletion of 10q, or inv dup del(10q) in a fetus with two concurrent chromosomal rearrangements. Materials, Methods and Results: A 39-year-old woman underwent amniocentesis at 20 weeks of gestation because of advanced maternal age. Amniocentesis revealed a der(10) with additional material at the end of the long arm of chromosome 10, a der(9) and a der(22). Parental karyotypes were normal. A de novo unbalanced complex chromosomal rearrangement (CCR) was diagnosed by conventional cytogenetics, but the breakpoints could not be defined. The pregnancy was subsequently terminated, and a malformed fetus was delivered with facial dysmorphism. Postnatal analysis of fetal tissues using spectral karyotyping, fluorescence in situ hybridization, multicolor banding, and array-comparative genomic hybridization identified an inv dup del(10q) with an inverted duplication of 10q25.1→q26.2 and a terminal deletion of 10q26.2→qter, and a balanced reciprocal translocation between chromosomes 9 and 22. Microsatellite analysis determined a paternal origin of the inv dup del(10q). The karyotype of the fetus was 46,XX,t(9;22)(p23;q13),der(10)del(10)(q26.2) dup(10)(q26.2q25.1)dn. Conclusion: A de novo inv dup del(10q) can be associated with a concurrent de novo balanced reciprocal translocation and should be differentiated from an unbalanced CCR by molecular cytogenetic techniques.http://www.sciencedirect.com/science/article/pii/S102845591200071X10qaCGHdeletionFISHinv dup del(10q)inverted duplication |
| spellingShingle | Chih-Ping Chen Ming Chen Yi-Ning Su Jian-Pei Huang Gwo-Chin Ma Shun-Ping Chang Schu-Rern Chern Yu-Ting Chen Jun-Wei Su Chen-Chi Lee Dai-Dyi Town Wayseen Wang Inv dup del(10q): Identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements Taiwanese Journal of Obstetrics & Gynecology 10q aCGH deletion FISH inv dup del(10q) inverted duplication |
| title | Inv dup del(10q): Identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements |
| title_full | Inv dup del(10q): Identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements |
| title_fullStr | Inv dup del(10q): Identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements |
| title_full_unstemmed | Inv dup del(10q): Identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements |
| title_short | Inv dup del(10q): Identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements |
| title_sort | inv dup del 10q identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements |
| topic | 10q aCGH deletion FISH inv dup del(10q) inverted duplication |
| url | http://www.sciencedirect.com/science/article/pii/S102845591200071X |
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