Prenatal diagnosis of sex chromosomal inversion, translocation and deletion

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Prenatal diagnosis of sex chromosomal inversion, translocation and deletion

The aim of the present study was to perform comprehensive prenatal diagnosis using various detection techniques on a fetus in a high‑risk pregnant woman, and to provide genetic counseling for the patient and her family so as to avoid birth defects. The routine karyotype analysis via amniocentesis, fluorescence in situ hybridization, and whole genome microarray technique were performed for the p...

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Prenatal Diagnosis of Triploidy in Fetus with Unexpected Chromosomal Translocation of Maternal Origin

Triploidy is a lethal chromosomal abnormality. Foetuses with triploid condition have a tendency to die in early conception and very few survive to term. In this study, we report the prenatal diagnosis of fetal triploidy with unexpected chromosomal translocation. A 27 years old women was referred to our clinical cytogenetic department due to history of previous conceptus with intrauterine growth...

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PRENATAL DIAGNOSIS OF CHROMOSOMAL DISORDERS - molecular aspects

It is known that perinatal mortality is caused in 20-25 percent of cases by inhaerited anomalies of fetuses and many of theese might be explained by genetic disorders. In general genetic disorder is a condition caused by abnormalities in genes or chromosomes. Chromosomes are complex bodies in cell nucleus as carriers of genes. While some diseases are due to genetic abnormalities acquired in a f...

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Prenatal diagnosis of chromosomal abnormalities--shifting paradigm.

It is very likely that in 10 years time, invasive prenatal diagnostic tests like amniocentesis and chorionic villus sampling (CVS) will join the club of forgotten obstetric procedures like vaginal breech delivery and rotational forceps delivery. In 1968, Henry Nadler1 and his team were the fi rst to report prenatal diagnosis of trisomy 21 from full karyotyping of cultured amniocytes obtained by...

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ژورنال

عنوان ژورنال: Molecular Medicine Reports

سال: 2017

ISSN: 1791-2997,1791-3004

DOI: 10.3892/mmr.2017.8198