TY - JOUR
T1 - The first case of a small supernumerary marker chromosome 18 in a klinefelter fetus
T2 - A case report
AU - Saberzadeh, Jamileh
AU - Miri, Mohammad Reza
AU - Dianatpour, Mehdi
AU - Behbahani, Abbas Behzad
AU - Tabei, Mohammad Bagher
AU - Alipour, Mohsen
AU - Faghihi, Mohammad Ali
AU - Fardaei, Majid
N1 - Funding Information:
The present study was supported by the Vice Chancellor for Research Affairs of Shiraz University of Medical Sciences, Shiraz, Iran (grant number 947541). We would like to thank all the staff at the Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences.
Publisher Copyright:
© 2019, Shiraz University of Medical Sciences. All rights reserved.
PY - 2019
Y1 - 2019
N2 - 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.
AB - 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.
KW - In situ hybridization, fluorescence
KW - Klinefelter syndrome
KW - Multiplex polymerase chain reaction
KW - Prenatal diagnosis
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M3 - Article
AN - SCOPUS:85059534544
VL - 44
SP - 65
EP - 69
JO - Pahlavi Medical Journal
JF - Pahlavi Medical Journal
SN - 0253-0716
IS - 1
ER -