https://doi.org/10.18502/ijrm.v19i5.9258
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authors
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Reza Mohammadi
Reza Mohammadi
Genetic Laboratory of Shiraz Fertility Center, Shiraz, Iran
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Raheleh Taheri
Raheleh Taheri
Genetic Laboratory of Shiraz Fertility Center, Shiraz, Iran
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Fatemeh Shahriyari
Fatemeh Shahriyari
Genetic Laboratory of Shiraz Fertility Center, Shiraz, Iran
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Farnaz Feiz
Farnaz Feiz
Shiraz University of Medical Sciences, Shiraz, Iran
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Zahra Mohammadi
Zahra Mohammadi
Pathobiology Laboratory of Ordibehesht Hospital, Shiraz, Iran
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Sadegh Shirian
Sadegh Shirian
Department of Pathology, School of Veterinary Medicine, Shahrekord University, Shahrekord, Iran
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Reza Raoofian
Reza Raoofian
Legal Medicine Research Center, Legal Medicine Organization, Tehran, Iran
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Abdorrasoul Malekpour
Abdorrasoul Malekpour
Legal Medicine Research Center, Legal Medicine Organization, Tehran, Iran
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Reza Pazhoomand
Reza Pazhoomand
Genetic Laboratory of Shiraz Fertility Center, Shiraz, Iran
Published Date
- Jun 23, 2021
Prenatal diagnosis of de novo small supernumerary marker chromosome 4q (4q11-q12): A case report
Abstract
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.
References
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