The Primed In Situ (PRINS) Technique: An Alternative Approach for Preimplantation Chromosomal Diagnosis
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The Primed In Situ (PRINS) technique: an alternative approach for preimplantation chromosomal diagnosis
Preimplantation genetic diagnosis (PGD) is a novel approach for the prevention of genetic disorders in couples at risk of having offspring with genetic disease. Although the original idea dates back to early 1960s when sexing of rabbit blastocysts was attempted, the first clinical application of PGD was reported about three decades later, describing the use of PCR for sexing embryos from couple...
full textPrader Willi/Angelman and DiGeorge/velocardiofacial syndrome deletions: diagnosis by primed in situ labeling (PRINS).
A recently developed methodology-primed in situ labeling (PRINS)-can be used in place of fluorescence in situ hybridization (FISH) to diagnose microdeletions. To demonstrate the efficiency, sensitivity, and specificity of PRINS in the diagnosis of microdeletions, we studied groups of patients with Prader Willi/Angelman (PWS/AS) syndrome and DiGeorge/velocardiofacial syndrome (DGS/VCFS). Results...
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Background: Sperm chromatin insufficiencies leading to low sperm count and quality, infertility and transmission of chromosomal microdeletion and aneuploidies to next generations can be due to exposure to environmental pollutions, chemicals and natural or manmade ionizing radiation. In this project which has continued for more than 10 years and is unique in many technical aspects in Iran and in...
full textestablishing an expanded fluorescence in situ hybridization (fish) probe panel for preimplantation genetic diagnosis (pgd)
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full textPseudodicentric chromosome 18 diagnosed by chromosome painting and primed in situ labelling (PRINS).
We report on a newborn white male infant with marked dysmorphic features and various congenital malformations. The initial clinical evaluation showed Crouzon-like features as well as some features of trisomy 18 syndrome and trisomy 13 syndrome. The results from conventional cytogenetic analysis showed a structurally abnormal chromosome replacing one normal chromosome 18, but only by applying mo...
full textTips and Tricks in Fluorescence In-situ Hybridization (FISH)- based Preimplantation Genetic Diagnosis /Screening (PGD/PGS)
As numerical and structural defects in chromosomes are an inevitable consequence of IVF, Pre-implantation genetic diagnosis and screening (PGD/PGS) methods are used for detecting abnormalities in embryos before implantation to the uterus to increase the successful rate of IVF. Pre-implantation genetic diagnosis and screening approaches can be achieved by different techniques such as NGS, CGH an...
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Journal title
volume 2 issue 3
pages 149- 157
publication date 2004-07-01
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