Chromosome 20 Trisomy Latest Advances

Complete cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes is common in mosaic trisomy 20 at amniocentesis with positive conventional cytogenetic analysis and negative chromosomal microarray analysis.

Journal: Taiwanese journal of obstetrics & gynecology

Published: July 19, 2024

Application of quantitative fluorescent polymerase chain reaction on the DNA extracted from cultured amniocytes for rapid exclusion of uniparental disomy 20 in case of mosaic trisomy 20 at amniocentesis.

Journal: Taiwanese journal of obstetrics & gynecology

Published: July 19, 2024

Rare Case of a 20p13 Duplication Trisomy With Craniostenosis.

Journal: Cureus

Published: June 08, 2024

Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium.

Journal: Molecular cytogenetics

Published: February 06, 2024

Short report: Twins with 20p13 duplication. Case report and comprehensive literature review.

Journal: Molecular genetics & genomic medicine

Published: December 09, 2023

The Multifaceted Syndromic Primary Immunodeficiencies in Children.

Journal: Journal of clinical medicine

Published: June 17, 2023

Low-level mosaic trisomy 20 without uniparental disomy 20 at amniocentesis in a pregnancy associated with a favorable outcome, cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes and perinatal progressive decrease of the aneuploid cell line.

Journal: Taiwanese journal of obstetrics & gynecology

Published: March 09, 2023

Low-level mosaic double trisomy involving trisomy 6 and trisomy 20 (48,XY,+6,+20) at amniocentesis without uniparental disomy (UPD) 6 and UPD 20 in a pregnancy associated with a favorable outcome.

Journal: Taiwanese journal of obstetrics & gynecology

Published: March 09, 2023

Alagille-like syndrome with surprising karyotype: a case report.

Journal: Journal of medical case reports

Published: November 23, 2022

Mosaic trisomy 20: discrepancy between cyto-and molecular genetic technologies in prenatal diagnosis

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: July 10, 2022

Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: June 30, 2022

Prenatal diagnosis of pseudomosaicism for trisomy 20 at amniocentesis with a negative non-invasive prenatal testing (NIPT) result in a pregnancy with a favorable outcome.

Journal: Taiwanese journal of obstetrics & gynecology

Published: May 12, 2022

Customize your search results with filters

Complete cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes is common in mosaic trisomy 20 at amniocentesis with positive conventional cytogenetic analysis and negative chromosomal microarray analysis.

Complete cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes is common in mosaic trisomy 20 at amniocentesis with positive conventional cytogenetic analysis and negative chromosomal microarray analysis.

Application of quantitative fluorescent polymerase chain reaction on the DNA extracted from cultured amniocytes for rapid exclusion of uniparental disomy 20 in case of mosaic trisomy 20 at amniocentesis.

Application of quantitative fluorescent polymerase chain reaction on the DNA extracted from cultured amniocytes for rapid exclusion of uniparental disomy 20 in case of mosaic trisomy 20 at amniocentesis.

Rare Case of a 20p13 Duplication Trisomy With Craniostenosis.

Rare Case of a 20p13 Duplication Trisomy With Craniostenosis.

Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium.

Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium.

Short report: Twins with 20p13 duplication. Case report and comprehensive literature review.

Short report: Twins with 20p13 duplication. Case report and comprehensive literature review.

The Multifaceted Syndromic Primary Immunodeficiencies in Children.

The Multifaceted Syndromic Primary Immunodeficiencies in Children.

Low-level mosaic trisomy 20 without uniparental disomy 20 at amniocentesis in a pregnancy associated with a favorable outcome, cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes and perinatal progressive decrease of the aneuploid cell line.

Low-level mosaic trisomy 20 without uniparental disomy 20 at amniocentesis in a pregnancy associated with a favorable outcome, cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes and perinatal progressive decrease of the aneuploid cell line.

Low-level mosaic double trisomy involving trisomy 6 and trisomy 20 (48,XY,+6,+20) at amniocentesis without uniparental disomy (UPD) 6 and UPD 20 in a pregnancy associated with a favorable outcome.

Low-level mosaic double trisomy involving trisomy 6 and trisomy 20 (48,XY,+6,+20) at amniocentesis without uniparental disomy (UPD) 6 and UPD 20 in a pregnancy associated with a favorable outcome.

Alagille-like syndrome with surprising karyotype: a case report.

Alagille-like syndrome with surprising karyotype: a case report.

Mosaic trisomy 20: discrepancy between cyto-and molecular genetic technologies in prenatal diagnosis

Mosaic trisomy 20: discrepancy between cyto-and molecular genetic technologies in prenatal diagnosis

Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome.

Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome.

Prenatal diagnosis of pseudomosaicism for trisomy 20 at amniocentesis with a negative non-invasive prenatal testing (NIPT) result in a pregnancy with a favorable outcome.

Prenatal diagnosis of pseudomosaicism for trisomy 20 at amniocentesis with a negative non-invasive prenatal testing (NIPT) result in a pregnancy with a favorable outcome.