Molecular cytogenetic characterization of inv dup del(8p) in a fetus associated with ventriculomegaly, hypoplastic left heart, polyhydramnios and intestinal obstruction
Objective: To present molecular cytogenetic characterization of inv dup del(8p) in a fetus with congenital malformations. Materials and Methods: A 19-year-old, primigravid woman underwent cord blood sampling at 31 weeks of gestation because of prenatal ultrasound findings of polyhydramnios, intestin...
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doaj-f162fc3e64214cf78c5af877e392e5c52020-11-24T21:59:50ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592016-06-0155341541810.1016/j.tjog.2016.05.001Molecular cytogenetic characterization of inv dup del(8p) in a fetus associated with ventriculomegaly, hypoplastic left heart, polyhydramnios and intestinal obstructionChih-Ping Chen0Tsang-Ming Ko1Wen-Chu Huang2Schu-Rern Chern3Peih-Shan Wu4Yen-Ni Chen5Shin-Wen Chen6Chen-Chi Lee7Chen-Wen Pan8Chien-Wen Yang9Wayseen Wang10Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, TaiwanGenephile Bioscience Laboratory, Ko's Obstetrics and Gynecology, Taipei, TaiwanDepartment of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei, TaiwanGene Biodesign Co. Ltd, 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 Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei, TaiwanObjective: To present molecular cytogenetic characterization of inv dup del(8p) in a fetus with congenital malformations. Materials and Methods: A 19-year-old, primigravid woman underwent cord blood sampling at 31 weeks of gestation because of prenatal ultrasound findings of polyhydramnios, intestinal obstruction, right ventriculomegaly, and hypoplastic left heart. Preterm precipitous labor and delivery occurred at 32 weeks of gestation. Array comparative genomic hybridization (aCGH), conventional cytogenetic analysis and metaphase fluorescence in situ hybridization (FISH) were applied on cord blood lymphocytes. aCGH was also applied on the umbilical cord. Conventional cytogenetic analysis was applied on parental bloods. Results: aCGH detected an 11.35 Mb deletion in 8p23.3-p23.1 encompassing SOX7 and GATA4, and a 31.99 Mb duplication in 8p23.1-p11.1 in the fetus. Metaphase FISH confirmed inv dup del(8p). The fetus had a karyotype of 46,XX,der(8)del(8)(p23.1) inv dup(8) (p11.1p23.1). Parental karyotypes were normal. A malformed fetus was delivered with facial dysmorphism. Conclusion: Fetuses with inv dup del(8p) may present central nervous system (CNS) abnormality and congenital heart defect on prenatal ultrasound. Prenatal diagnosis of concomitant CNS and cardiac abnormalities should include a differential diagnosis of chromosome 8p inverted duplication deletion syndrome.http://www.sciencedirect.com/science/article/pii/S1028455916300559aCGHchromosome 8p inverted duplication deletion syndromeinv dup del(8p)prenatal diagnosisultrasound |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Chih-Ping Chen Tsang-Ming Ko Wen-Chu Huang Schu-Rern Chern Peih-Shan Wu Yen-Ni Chen Shin-Wen Chen Chen-Chi Lee Chen-Wen Pan Chien-Wen Yang Wayseen Wang |
spellingShingle |
Chih-Ping Chen Tsang-Ming Ko Wen-Chu Huang Schu-Rern Chern Peih-Shan Wu Yen-Ni Chen Shin-Wen Chen Chen-Chi Lee Chen-Wen Pan Chien-Wen Yang Wayseen Wang Molecular cytogenetic characterization of inv dup del(8p) in a fetus associated with ventriculomegaly, hypoplastic left heart, polyhydramnios and intestinal obstruction Taiwanese Journal of Obstetrics & Gynecology aCGH chromosome 8p inverted duplication deletion syndrome inv dup del(8p) prenatal diagnosis ultrasound |
author_facet |
Chih-Ping Chen Tsang-Ming Ko Wen-Chu Huang Schu-Rern Chern Peih-Shan Wu Yen-Ni Chen Shin-Wen Chen Chen-Chi Lee Chen-Wen Pan Chien-Wen Yang Wayseen Wang |
author_sort |
Chih-Ping Chen |
title |
Molecular cytogenetic characterization of inv dup del(8p) in a fetus associated with ventriculomegaly, hypoplastic left heart, polyhydramnios and intestinal obstruction |
title_short |
Molecular cytogenetic characterization of inv dup del(8p) in a fetus associated with ventriculomegaly, hypoplastic left heart, polyhydramnios and intestinal obstruction |
title_full |
Molecular cytogenetic characterization of inv dup del(8p) in a fetus associated with ventriculomegaly, hypoplastic left heart, polyhydramnios and intestinal obstruction |
title_fullStr |
Molecular cytogenetic characterization of inv dup del(8p) in a fetus associated with ventriculomegaly, hypoplastic left heart, polyhydramnios and intestinal obstruction |
title_full_unstemmed |
Molecular cytogenetic characterization of inv dup del(8p) in a fetus associated with ventriculomegaly, hypoplastic left heart, polyhydramnios and intestinal obstruction |
title_sort |
molecular cytogenetic characterization of inv dup del(8p) in a fetus associated with ventriculomegaly, hypoplastic left heart, polyhydramnios and intestinal obstruction |
publisher |
Elsevier |
series |
Taiwanese Journal of Obstetrics & Gynecology |
issn |
1028-4559 |
publishDate |
2016-06-01 |
description |
Objective: To present molecular cytogenetic characterization of inv dup del(8p) in a fetus with congenital malformations.
Materials and Methods: A 19-year-old, primigravid woman underwent cord blood sampling at 31 weeks of gestation because of prenatal ultrasound findings of polyhydramnios, intestinal obstruction, right ventriculomegaly, and hypoplastic left heart. Preterm precipitous labor and delivery occurred at 32 weeks of gestation. Array comparative genomic hybridization (aCGH), conventional cytogenetic analysis and metaphase fluorescence in situ hybridization (FISH) were applied on cord blood lymphocytes. aCGH was also applied on the umbilical cord. Conventional cytogenetic analysis was applied on parental bloods.
Results: aCGH detected an 11.35 Mb deletion in 8p23.3-p23.1 encompassing SOX7 and GATA4, and a 31.99 Mb duplication in 8p23.1-p11.1 in the fetus. Metaphase FISH confirmed inv dup del(8p). The fetus had a karyotype of 46,XX,der(8)del(8)(p23.1) inv dup(8) (p11.1p23.1). Parental karyotypes were normal. A malformed fetus was delivered with facial dysmorphism.
Conclusion: Fetuses with inv dup del(8p) may present central nervous system (CNS) abnormality and congenital heart defect on prenatal ultrasound. Prenatal diagnosis of concomitant CNS and cardiac abnormalities should include a differential diagnosis of chromosome 8p inverted duplication deletion syndrome. |
topic |
aCGH chromosome 8p inverted duplication deletion syndrome inv dup del(8p) prenatal diagnosis ultrasound |
url |
http://www.sciencedirect.com/science/article/pii/S1028455916300559 |
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