Prenatal diagnosis of de novo isochromosome 4p with an unbalanced t(4;9) translocation in a fetus with congenital anomalies: A case report and literature review
Objective: We present the first case of prenatally diagnosed isochromosome 4p with whole 4q arm translocating to chromosome 9p23 and review the literature. Case Report: A 26-year-old woman underwent amniocentesis at 25 weeks of gestation because of an abnormal ultrasound examination. Routine chromos...
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| Format: | Article |
| Language: | English |
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Elsevier
2022-01-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455921003326 |
| _version_ | 1823957211822424064 |
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| author | Yan-Yi Yao Cheng-Cheng Zhang Hao Bi Feng Zhu |
| author_facet | Yan-Yi Yao Cheng-Cheng Zhang Hao Bi Feng Zhu |
| author_sort | Yan-Yi Yao |
| collection | DOAJ |
| description | Objective: We present the first case of prenatally diagnosed isochromosome 4p with whole 4q arm translocating to chromosome 9p23 and review the literature. Case Report: A 26-year-old woman underwent amniocentesis at 25 weeks of gestation because of an abnormal ultrasound examination. Routine chromosome analysis on cultured amniocytes showed a karyotype of 46,XX, ?idic(4)(q11),der(9)t(4;9)(q11;p23). Single nucleotide polymorphism (SNP) array analysis on uncultured amniocytes detected two copy number variations (CNVs): arr [GRCh37] 4p16.3p11(68345-49089361) × 3; arr [GRCh37] 9p24.3p23(208454-10039391) × 1. The karyotypes of the parents were normal, indicating that the chromosomal rearrangement was de novo. According to the fetal-parent trios SNP analysis, both the abnormal chromosomes were originated from the father. The pregnancy was terminated at 30 weeks of gestation, and a malformed fetus was delivered with dysmorphic craniofacial, short neck, wide-spaced nipples and rocker-bottom feet. Conclusion: The combined application of traditional cytogenetic technology and molecular diagnosis technology in prenatal diagnosis helps identify genetic components and the origin of isochromosome, which enable clinicians to precisely predict the fetal prognosis and provide accurate genetic counselling and fertility guidance. |
| first_indexed | 2024-12-17T15:57:09Z |
| format | Article |
| id | doaj.art-0a3af107303f4da28c1dede700cfd073 |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-12-17T15:57:09Z |
| publishDate | 2022-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-0a3af107303f4da28c1dede700cfd0732022-12-21T21:42:13ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592022-01-01611157162Prenatal diagnosis of de novo isochromosome 4p with an unbalanced t(4;9) translocation in a fetus with congenital anomalies: A case report and literature reviewYan-Yi Yao0Cheng-Cheng Zhang1Hao Bi2Feng Zhu3Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, ChinaMedical Genetics Center, Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, ChinaDepartment of Laboratory Medicine, Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China; Corresponding author.Department of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China; Clinic Center of Human Gene Research, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China; Corresponding author. Department of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.Objective: We present the first case of prenatally diagnosed isochromosome 4p with whole 4q arm translocating to chromosome 9p23 and review the literature. Case Report: A 26-year-old woman underwent amniocentesis at 25 weeks of gestation because of an abnormal ultrasound examination. Routine chromosome analysis on cultured amniocytes showed a karyotype of 46,XX, ?idic(4)(q11),der(9)t(4;9)(q11;p23). Single nucleotide polymorphism (SNP) array analysis on uncultured amniocytes detected two copy number variations (CNVs): arr [GRCh37] 4p16.3p11(68345-49089361) × 3; arr [GRCh37] 9p24.3p23(208454-10039391) × 1. The karyotypes of the parents were normal, indicating that the chromosomal rearrangement was de novo. According to the fetal-parent trios SNP analysis, both the abnormal chromosomes were originated from the father. The pregnancy was terminated at 30 weeks of gestation, and a malformed fetus was delivered with dysmorphic craniofacial, short neck, wide-spaced nipples and rocker-bottom feet. Conclusion: The combined application of traditional cytogenetic technology and molecular diagnosis technology in prenatal diagnosis helps identify genetic components and the origin of isochromosome, which enable clinicians to precisely predict the fetal prognosis and provide accurate genetic counselling and fertility guidance.http://www.sciencedirect.com/science/article/pii/S1028455921003326Chromosome 9p deletion syndromeIsochromosome 4pPrenatal diagnosisTrisomy 4p syndromeWhole-arm translocation |
| spellingShingle | Yan-Yi Yao Cheng-Cheng Zhang Hao Bi Feng Zhu Prenatal diagnosis of de novo isochromosome 4p with an unbalanced t(4;9) translocation in a fetus with congenital anomalies: A case report and literature review Taiwanese Journal of Obstetrics & Gynecology Chromosome 9p deletion syndrome Isochromosome 4p Prenatal diagnosis Trisomy 4p syndrome Whole-arm translocation |
| title | Prenatal diagnosis of de novo isochromosome 4p with an unbalanced t(4;9) translocation in a fetus with congenital anomalies: A case report and literature review |
| title_full | Prenatal diagnosis of de novo isochromosome 4p with an unbalanced t(4;9) translocation in a fetus with congenital anomalies: A case report and literature review |
| title_fullStr | Prenatal diagnosis of de novo isochromosome 4p with an unbalanced t(4;9) translocation in a fetus with congenital anomalies: A case report and literature review |
| title_full_unstemmed | Prenatal diagnosis of de novo isochromosome 4p with an unbalanced t(4;9) translocation in a fetus with congenital anomalies: A case report and literature review |
| title_short | Prenatal diagnosis of de novo isochromosome 4p with an unbalanced t(4;9) translocation in a fetus with congenital anomalies: A case report and literature review |
| title_sort | prenatal diagnosis of de novo isochromosome 4p with an unbalanced t 4 9 translocation in a fetus with congenital anomalies a case report and literature review |
| topic | Chromosome 9p deletion syndrome Isochromosome 4p Prenatal diagnosis Trisomy 4p syndrome Whole-arm translocation |
| url | http://www.sciencedirect.com/science/article/pii/S1028455921003326 |
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