The First Case of a Small Supernumerary Marker Chromosome 18 in a Klinefelter Fetus: A Case Report
Journal Title: Iranian Journal of Medical Sciences - Year 2019, Vol 44, Issue 1
Abstract
Small supernumerary marker chromosomes (sSMCs), or markers, are abnormal chromosomal fragments that can be hereditary or de novo. Despite the importance of sSMCs diagnosis, de novo sSMCs are rarely detected during the prenatal diagnosis process. Usually, prenatally diagnosed de novo sSMCs cannot be correlated with a particular phenotype without knowing their chromosomal origin and content; therefore, molecular cytogenetic techniques are applied to achieve this goal. The present study aimed to characterize an sSMC in a case of Klinefelter syndrome using an in-house microsatellite analysis method and fluorescent in situ hybridization (FISH) technique. Amniotic fluid was collected from a pregnant woman who was considered to have risk factors for trisomy higher than the screening cut-off. Karyotype analysis was followed by the amplification of different microsatellite loci and FISH technique. Karyotype analysis identified a fetus with an extra X chromosome and also an sSMC with unknown identity. Further investigation of the parents showed that the sSMC is de novo. Microsatellite amplification by quantitative fluorescent PCR (QF-PCR) and FISH analysis showed that the sSMC is a derivative of chromosome 18. Eventually, the patient decided to terminate the pregnancy. Here, the first case of the coincidence of sSMC 18 in a Klinefelter fetus is reported.
Authors and Affiliations
Jamileh Saberzadeh, Mohammad Reza Miri, Mehdi Dianatpour, Abbas Behzad Behbahani, Mohammad Bagher Tabei, Mohsen Alipour, Mohammad Ali Faghihi, Majid Fardaei
Keywords
Related Articles
- EP ID EP475035
- DOI -
- Views 90
- Downloads 0
A Small Meningioma with Extensive Peritumoral Brain Edema: A Case Report
Meningioma is the second most common brain tumor. The extent of peritumoral brain edema (PTBE) is one of the important prognostic factors in patients with meningioma. A 55-year-old female patient suffering from a progres...
Assessing the Quality of Educational Services of Iranian Universities of Medical Sciences Based on the SERVQUAL Evaluation Model: A Systematic Review and Meta-Analysis
Background: Determining the gap in the quality of educational services, followed by the adoption of appropriate strategies for eliminating or reducing the existing obstacles, is considered the first basic step in develop...
Admission Test and Pregnancy Outcome
Background: The admission test (AT) has been carried out for many years, but there are still debates about the prognostic value of the test. Therefore, we aimed to examine the value of the AT in predicting the adverse ou...
The First Case of a Small Supernumerary Marker Chromosome 18 in a Klinefelter Fetus: A Case Report
Small supernumerary marker chromosomes (sSMCs), or markers, are abnormal chromosomal fragments that can be hereditary or de novo. Despite the importance of sSMCs diagnosis, de novo sSMCs are rarely detected during the pr...
A prospective Crossover Triple-blind Controlled Trial on the Safety and Efficacy of Iranian Recombinant FVIII (Safacto) versus Plasma Derived FVIII A pilot study
Background: Considering the increasing number of patients with hemophilia and infrastructure requirements for a comprehensive approach, development of a recombinant factor has become a milestone. The objective of this st...