Detection of de novo del(18)(q22.2) and a familial of 15q13.2-q13.3 microduplication in a fetus with congenital heart defects
| Autor: | Wayseen Wang, Fang-Tzu Wu, Shin-Wen Chen, Chen-Yu Chen, Peih-Shan Wu, Chih-Ping Chen, Schu-Rern Chern, Li-Feng Chen |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Adult
Heart Defects Congenital Pathology medicine.medical_specialty Genetic counseling Chromosome Disorders Genetic Counseling Prenatal diagnosis Umbilical cord lcsh:Gynecology and obstetrics Ultrasonography Prenatal 03 medical and health sciences 0302 clinical medicine Pregnancy Seizures Intellectual Disability Prenatal Diagnosis medicine Humans lcsh:RG1-991 Chromosomes Human Pair 15 Comparative Genomic Hybridization Fetus 030219 obstetrics & reproductive medicine business.industry Obstetrics and Gynecology Abortion Induced medicine.disease Fetal Diseases medicine.anatomical_structure Karyotyping Cytogenetic Analysis Gestation Female Distal 18q Chromosome Deletion Chromosomes Human Pair 18 business Comparative genomic hybridization |
| Zdroj: | Taiwanese Journal of Obstetrics & Gynecology, Vol 58, Iss 5, Pp 704-708 (2019) |
| ISSN: | 1028-4559 |
| Popis: | Objective: We present detection of de novo del(18)(q22.2) and a familial 15q13.2-q13.3 microduplication in a fetus with congenital heart defects (CHD). Case report: A 27-year-old, primigravid woman was referred for genetic counseling because of fetal CHD. Prenatal ultrasound at 17 weeks of gestation revealed pericardial effusion, cardiomegaly and a large ventricular septal defect. The pregnancy was subsequently terminated at 18 weeks of gestation, and a 192-g female fetus was delivered with facial dysmorphism. Cytogenetic analysis of the umbilical cord revealed a karyotype of 46,XX,del(18)(q22.2). The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) of the placental tissue revealed a 2.08-Mb 15q13.2-q13.3 microduplication encompassing KLF13 and CHRNA7, and a 10.74-Mb 18q22.2-q23 deletion encompassing NFATC1. The phenotypically normal father carried the same 2.08-Mb 15q13.2-q13.3 microduplication. Polymorphic DNA marker analysis confirmed a paternal origin of the distal 18q deletion. Conclusion: Prenatal diagnosis of CHD should include a complete genetic study of the embryonic tissues, and the acquired information is useful for genetic counseling. Keywords: 15q13.2-q13.3 microduplication, del(18)(q22.2), KLF13, NFATC1, Ventricular septal defect |
| Databáze: | OpenAIRE |
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