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Analysis of copy number variants detected by sequencing in spontaneous abortion
BackgroundThe incidence of spontaneous abortion (SA), which affects approximately 15–20% of pregnancies, is the most common complication of early...
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A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC)
BackgroundNon-invasive prenatal testing (NIPT) is a rapidly develo** and widely used method in the prenatal screening. Recently, the widespread use...
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Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview
BackgroundPartial trisomy 13q is a less common chromosomal abnormality with a great clinical variability, among them, isolated partial trisomy 13q is...
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Chromosome aneuploidy analysis in embryos derived from in vivo and in vitro matured human oocytes
BackgroundIn vitro oocyte maturation (IVM) is being increasingly approached in assisted reproductive technology (ART). This study aimed to evaluate...
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Deletions
Indication for chromosome analysis: Characteristic symptoms of the deletion 1p36.
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A fetal fraction enrichment method reduces false negatives and increases test success rate of fetal chromosome aneuploidy detection in early pregnancy loss
ObjectiveWe and others have previously demonstrated that the size-selection enrichment method could remarkably improve fetal fraction (FF) in the...
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Isochromosomes
Indication for chromosome analysis: Developmental retardation, minor facial dysmorphisms.
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Genetic analysis of endometriosis and depression identifies shared loci and implicates causal links with gastric mucosa abnormality
Evidence from observational studies indicates that endometriosis and depression often co-occur. However, conflicting evidence exists, and the...
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Ring Chromosomes
Indication for chromosome analysis: Developmental retardation, morphologic peculiarities according to de Grouchy syndrome II.
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Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis
BackgroundSmall supernumerary marker chromosome (sSMC) is a structurally abnormal chromosome of unknown origin by conventional cytogenetics. The...
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ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy
ERBB4 encodes the tyrosine kinase receptor HER4, a critical regulator of normal cell function and neurodevelopmental processes in the brain. One of...
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Sex Chromosome DSD
Some DSD are caused by atypical combinations of sex chromosomes. Sex chromosome DSD, where there is aneuploidy, or lack of paired chromosomes, is the...
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Assessment of Geno- and Cytotoxic Effects of Propineb Using Onion Apical Root Meristem
In this study, morphotoxic and cytogenotoxic potency of trade formulation of Propineb were analyzed using Allium cepa assay. The root tips were...
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When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20
BackgroundInfantile hypercalcemia is an autosomal recessive disorder caused either by mutations in the CYP24A1 gene (20q13.2) or in the SLC34A1 gene...
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The correlation between maternal age and fetal sex chromosome aneuploidies: a 8-year single institution experience in China
BackgroundAlthough a few studies have investigated a possible association between maternal age and fetal sex chromosome aneuploidies (SCAs), most of...
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Chromosome Y as a marker for sex discrepancies in patients with organ transplants: a case report
BackgroundOrgan transplantations cause discrepancy in results from cell-free DNA (cfDNA) testing, but scientific literature is scarce.
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Evidence for nonhomologous meiotic coorientation in man
Nonhomologous meiotic co-orientation (NMC) was postulated for humans a half of century ago to explain the association between the presence of a...
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Prenatal diagnosis and perinatal outcomes of twin pregnancies disharmonious for one fetus with nuchal translucency above the 95th percentile
ObjectiveTo assess prenatal diagnosis and pregnancy outcomes in twin pregnancies where one fetus has nuchal translucency (NT) above the 95th...
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Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review
BackgroundCopy number variation (CNV) of X chromosome can lead to a variety of neonatal abnormalities, especially for male fetuses. In recent years,...
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Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses
BackgroundFew co-occurrence cases of mosaic aneuploidy and uniparental disomy (UPD) chromosomes have been reported in prenatal periods. It is a big...
