Prenatal diagnosis of de novo small supernumerary marker chromosome 4q (4q11-q12): A case report
| Autor: | Reza Raoofian, Reza Pazhoomand, Abdorrasoul Malekpour, Raheleh Taheri, Sadegh Shirian, Fatemeh Shahriyari, Reza Mohammadi, Zahra Mohammadi, Farnaz Feiz |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Genetics
QH471-489 medicine.diagnostic_test Reproduction Marker chromosome Prenatal diagnosis Obstetrics and Gynecology Aneuploidy Case Report Karyotype Gynecology and obstetrics Array CGH Biology Chromosome markers medicine.disease Chromosome 4 prenatal diagnosis array cgh chromosome 4 chromosome markers Reproductive Medicine RG1-991 medicine Amniocentesis Amniocyte Trisomy Small supernumerary marker chromosome |
| Zdroj: | International Journal of Reproductive Biomedicine International Journal of Reproductive BioMedicine, Vol 19, Iss 5, Pp 477-482 (2021) |
| ISSN: | 2476-3772 2476-4108 |
| Popis: | Background: Small supernumerary marker chromosomes (sSMCs) are chromosomal fragments with abnormal structures found in patients with fertility problems and developmental delay. They may be detected in amniotic cell karyotypes. sSMCs are categorized as hereditary or de novo. Here, we describe a case of prenatal de novo 4q11q12 sSMC and its molecular cytogenetic features which had no apparent phenotypic abnormality. Case: The fetus of a 36-yr-old pregnant woman was detected positive for Down’s syndrome (trisomy 21) at the 16th wk of gestation. Quantitative fluorescent polymerase chain reaction technique was applied for the rapid detection of numerical aneuploidy of chromosomes X, Y, 13, 18, and 21 microsatellites. Array comparative genomic hybridization (array CGH) technique was also conducted following the karyotype analysis of amniotic cells. The karyotype analysis was also done for the parents. Quantitative fluorescent polymerase chain reaction result revealed a male fetus with a normal chromosomal pattern, while the amniocentesis karyotype analysis identified a male fetus with a marker chromosome (47, XY, +mar), and the sSMC were existing in 100% of amniocyte metaphase spreads. The parents’ normal karyotypes indicated that the sSMC was de novo. Array CGH analysis revealed a 6.48-Mb duplication at 4q11q12. Eventually, the parents decided to terminate the pregnancy by legal abortion. Conclusion: Our study highlights the importance of the application of array CGH in combination with karyotype analysis for rapid and precise prenatal diagnosis of partial aneuploidy region. Key words: Prenatal diagnosis, Array CGH, Chromosome 4, Chromosome markers. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|