Detection of sex chromosome aneuploidies using quantitative fluorescent PCR in the Hungarian population

Nagy, Béla; Nagy, Richárd; Lázár, Levente; Schonleber, Julianna; Papp, Csaba; Rigó, János

doi:10.1016/j.cca.2015.03.009

Cited by 5 publications

(3 citation statements)

References 22 publications

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“…Chromosomal abnormalities are the cause of pregnancy loss in 50 to 80% of cases depending on maternal and gestational age at the time of pregnancy loss [5]. Turner syndrome is the most frequent chromosomal abnormallity of sex chromosomes, found in 20 to 25% of cytogenetically abnormal fetuses by some authors [33,34]. Triploidy and tetraploidy result from abnormal fertilization and are not compatible with life.…”

Section: Discussionmentioning

confidence: 99%

Detection of Placental Chromosomal Aberrations in Early Spontaneous Abortionsin Correlation with the Histologic Findings

Kubelka-Sabit¹,

Bozinovski²,

Jasar³

et al. 2017

Macedonian Medical Review

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Using a variety of molecular techniques, it has been established that loss of pregnancy occurs in one to two thirds of all fertilized embryos in the first trimester. In about 50% of the cases, chromosomal abnormalities are the cause of early spontaneous abortion. Several histological characteristics of the placenta, such as presence of villous stromal cavitations, fetal erythrocytes, umbilical cord, fetal tissue, etc. are suggested as predictive factors for aneuploidy. Two hundred and thirty one cases were analyzed in this prospective study, 50 cases were control artificial abortions and 181 cases were early spontaneous abortionsanalyzed in the period from May 2012 to December 2014. Standard histopathological analysis and molecular techniques based on polymerase chain reaction were used to analyze the samples. Usingmolecular techniques, aneuploidy was detected in 53.1% of the samples. The most frequently detected aneuploidy was trisomy 16, followed by trisomy 22, 21, 14 and 18. The molecular analysis also enabled distinction of maternal and paternal origin of the alleles. In the histopathological sample analysis, binary logistic regression analysis indicated the presence of trophoblastic proliferation (p=0.008) and the absence of fetal red blood cells (p=0.001) as independent significant factors in the prediction of aneuploidy in early spontaneous abortion. In conclusion, our results show that clinically relevant and accurate diagnosis of early spontaneous abortion which can determine its causecan only be achieved bya controlled process of selection of the material, histo-pathological and molecular analysis, followed bya necessary correlation of these results.

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Section: Discussionmentioning

confidence: 99%

Detection of Placental Chromosomal Aberrations in Early Spontaneous Abortionsin Correlation with the Histologic Findings

Kubelka-Sabit¹,

Bozinovski²,

Jasar³

et al. 2017

Macedonian Medical Review

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show abstract

“…The common aneuploidies include monosomy X, trisomy 21, trisomy 18 and trisomy13 and trisomy Y in human. While the autosomal aneuploidies cause serious malformations, but the sex chromosomal aneuploidies may cause less severe abnormalities [1][2][3][4] . The "gold standard" method for the detection of these autosomal and/or sex chromosal abnormalities of aneuploides is conventional cytogenetic analysis of phytohemagglutinin-stimulated peripheral blood karyotype analysis.…”

Section: Introductionmentioning

confidence: 99%

“…The "gold standard" method for the detection of these autosomal and/or sex chromosal abnormalities of aneuploides is conventional cytogenetic analysis of phytohemagglutinin-stimulated peripheral blood karyotype analysis. The XYY syndrome is common sex chromosomal abnormality that a prevalence of 1:1,000 live male births 1,2 . The majority of XYY males are phenotypically normal but there is seldom literature reports of variable autistic problems [5][6][7] .…”

Section: Introductionmentioning

confidence: 99%

An infertile case of 47,XYY syndrome without autistic spectrum: Cost effective well-define of extra Y chromosome by GTG, C bandings, QF-PCR and FISH analyses

Özdemir

Paksoy

Gurgen

et al. 2016

Cumhuriyet Medical Journal

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The Autism Spectrum Disorders (ASD) was frequently reported in autosomal and sex chromosome abnormalities and limited findings pointed out the Y chromosome. In the current case, it was aimed to identify the genetic cause for a man without autism profiles using combined cytogenetic and molecular genetic techniques. Automated karyotype analysis was made after combined methods with GTG, C bandings, QF-PCR and FISH techniquesfor the current case. Additional Y chromosome was identified after conventional GTG and C-banded karyotype analysis. The current case of 47,XYY syndrome was reported due to without autistic profiles such as language and social impairment. The proband's karyotype was determined as 47,XYY. No other numerical and/or structural chromosomal abnormalities were detected in the karyotype analysis. Cytogenetic methods combined with cost-effective techniques such as C, GTG banding and FISH provide well-define of extra Y chromosome in the presented case of without autistic spectrum. Both Y chromosomes were in the same size and C-banded profiles in the current proband pointed out that both are originated from one chromosome by endoreduplication Y chromosome after zigot formation

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QF-PCR: a valuable first-line prenatal and postnatal test for common aneuploidies in South Africa

et al. 2022

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Detection of sex chromosome aneuploidies using quantitative fluorescent PCR in the Hungarian population

Cited by 5 publications

References 22 publications

Detection of Placental Chromosomal Aberrations in Early Spontaneous Abortionsin Correlation with the Histologic Findings

Detection of Placental Chromosomal Aberrations in Early Spontaneous Abortionsin Correlation with the Histologic Findings

An infertile case of 47,XYY syndrome without autistic spectrum: Cost effective well-define of extra Y chromosome by GTG, C bandings, QF-PCR and FISH analyses

QF-PCR: a valuable first-line prenatal and postnatal test for common aneuploidies in South Africa

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