A rare cardiac phenotype of dextrocardia observed in a fetus with 1p36 deletion syndrome and a balanced translocation: a prenatal case report
Abstract Background Chromosome 1p36 deletion syndrome is a contiguous genetic disorder with multiple congenital anomalies and mental retardation. It has been emerging as one of the most common terminal deletion syndromes in humans with the rapid utility of microarray analysis. However, the prenatal...
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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/s13039-020-00514-1 |
| _version_ | 1818529832265318400 |
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| author | Li Gao Junyu Zhang Xu Han Wenjing Hu Jinling Sun Yuru Tan Xinrong Zhao Renyi Hua Shan Wang Yan Zhang Yanlin Wang Yi Wu |
| author_facet | Li Gao Junyu Zhang Xu Han Wenjing Hu Jinling Sun Yuru Tan Xinrong Zhao Renyi Hua Shan Wang Yan Zhang Yanlin Wang Yi Wu |
| author_sort | Li Gao |
| collection | DOAJ |
| description | Abstract Background Chromosome 1p36 deletion syndrome is a contiguous genetic disorder with multiple congenital anomalies and mental retardation. It has been emerging as one of the most common terminal deletion syndromes in humans with the rapid utility of microarray analysis. However, the prenatal findings of 1p36 deletion syndrome are still limited. We report a fetus with 1p36 deletion and cardiac phenotype of dextrocardia, combined with a balanced translocation between chromosome 5 and 6. The phenotype of dextrocardia is rarely reported in prenatal 1p36 deletion cases. Case presentation We present a prenatal 1p36 deletion case with congenital heart diseases and single umbilical artery. Fetal echocardiography showed dextrocardia, ventricular septal defect and pericardial effusion. Fetal karyotype revealed a de novo balanced translocation of 46,XY,t(5;6)(q11.2;q23.3). Chromosomal microarray analysis detected a pathogenic deletion in 1p36.21p36.12, with the size of 6.38 Mb. Further whole genome sequencing revealed that the balanced translocation disrupted the EYA4 and ITGA1 genes. Conclusions Although congenital heart diseases are very common clinical manifestations among patients with 1p36 deletion, dextrocardia is a quite rare cardiac phenotype. This is the second case with 1p36 deletion and dextrocardia, and the first prenatally diagnosed 1p36 deletion case with dextrocardia. Our case indicates that genes in 1p36 are associated with not only heart structural anomalies, but also cardiac laterality development. Our results also imply that the EYA4 gene disrupted by the balanced translocation might be related with the cardiac development. |
| first_indexed | 2024-12-11T17:11:59Z |
| format | Article |
| id | doaj.art-a4ecf1b975ea4cb9bb04aa54d372d504 |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-12-11T17:11:59Z |
| publishDate | 2020-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj.art-a4ecf1b975ea4cb9bb04aa54d372d5042022-12-22T00:57:30ZengBMCMolecular Cytogenetics1755-81662020-11-011311710.1186/s13039-020-00514-1A rare cardiac phenotype of dextrocardia observed in a fetus with 1p36 deletion syndrome and a balanced translocation: a prenatal case reportLi Gao0Junyu Zhang1Xu Han2Wenjing Hu3Jinling Sun4Yuru Tan5Xinrong Zhao6Renyi Hua7Shan Wang8Yan Zhang9Yanlin Wang10Yi Wu11Prenatal Diagnostic Center, International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong UniversityDepartment of Reproductive Genetics, International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong UniversityDepartment of Reproductive Genetics, International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong UniversityDepartment of Reproductive Genetics, International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong UniversityPrenatal Diagnostic Center, International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong UniversityPrenatal Diagnostic Center, International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong UniversityPrenatal Diagnostic Center, International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong UniversityPrenatal Diagnostic Center, International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong UniversityPrenatal Diagnostic Center, International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong UniversityPrenatal Diagnostic Center, International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong UniversityPrenatal Diagnostic Center, International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong UniversityPrenatal Diagnostic Center, International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong UniversityAbstract Background Chromosome 1p36 deletion syndrome is a contiguous genetic disorder with multiple congenital anomalies and mental retardation. It has been emerging as one of the most common terminal deletion syndromes in humans with the rapid utility of microarray analysis. However, the prenatal findings of 1p36 deletion syndrome are still limited. We report a fetus with 1p36 deletion and cardiac phenotype of dextrocardia, combined with a balanced translocation between chromosome 5 and 6. The phenotype of dextrocardia is rarely reported in prenatal 1p36 deletion cases. Case presentation We present a prenatal 1p36 deletion case with congenital heart diseases and single umbilical artery. Fetal echocardiography showed dextrocardia, ventricular septal defect and pericardial effusion. Fetal karyotype revealed a de novo balanced translocation of 46,XY,t(5;6)(q11.2;q23.3). Chromosomal microarray analysis detected a pathogenic deletion in 1p36.21p36.12, with the size of 6.38 Mb. Further whole genome sequencing revealed that the balanced translocation disrupted the EYA4 and ITGA1 genes. Conclusions Although congenital heart diseases are very common clinical manifestations among patients with 1p36 deletion, dextrocardia is a quite rare cardiac phenotype. This is the second case with 1p36 deletion and dextrocardia, and the first prenatally diagnosed 1p36 deletion case with dextrocardia. Our case indicates that genes in 1p36 are associated with not only heart structural anomalies, but also cardiac laterality development. Our results also imply that the EYA4 gene disrupted by the balanced translocation might be related with the cardiac development.http://link.springer.com/article/10.1186/s13039-020-00514-11p36 deletion syndromePrenatal diagnosisIsolated dextrocardiaChromosomal microarray analysisWhole genome sequencing |
| spellingShingle | Li Gao Junyu Zhang Xu Han Wenjing Hu Jinling Sun Yuru Tan Xinrong Zhao Renyi Hua Shan Wang Yan Zhang Yanlin Wang Yi Wu A rare cardiac phenotype of dextrocardia observed in a fetus with 1p36 deletion syndrome and a balanced translocation: a prenatal case report Molecular Cytogenetics 1p36 deletion syndrome Prenatal diagnosis Isolated dextrocardia Chromosomal microarray analysis Whole genome sequencing |
| title | A rare cardiac phenotype of dextrocardia observed in a fetus with 1p36 deletion syndrome and a balanced translocation: a prenatal case report |
| title_full | A rare cardiac phenotype of dextrocardia observed in a fetus with 1p36 deletion syndrome and a balanced translocation: a prenatal case report |
| title_fullStr | A rare cardiac phenotype of dextrocardia observed in a fetus with 1p36 deletion syndrome and a balanced translocation: a prenatal case report |
| title_full_unstemmed | A rare cardiac phenotype of dextrocardia observed in a fetus with 1p36 deletion syndrome and a balanced translocation: a prenatal case report |
| title_short | A rare cardiac phenotype of dextrocardia observed in a fetus with 1p36 deletion syndrome and a balanced translocation: a prenatal case report |
| title_sort | rare cardiac phenotype of dextrocardia observed in a fetus with 1p36 deletion syndrome and a balanced translocation a prenatal case report |
| topic | 1p36 deletion syndrome Prenatal diagnosis Isolated dextrocardia Chromosomal microarray analysis Whole genome sequencing |
| url | http://link.springer.com/article/10.1186/s13039-020-00514-1 |
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