Automated Author Profile

Vseticka, Jan

Current S-Index

1.3

Sum of Dataset Indices for all datasets

Average Dataset Index per Dataset

0.7

Average Dataset Index per dataset

Total Datasets

2

Total datasets for this author

Average FAIR Score

13.5%

Average FAIR Score per dataset

Total Citations

2

Total citations to the author's datasets

Total Mentions

0

Total mentions of the author's datasets

S-Index Interpretation

S-Index Over Time

Cumulative Citations Over Time

Cumulative Mentions Over Time

Datasets

Supplementary Material for: Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers

he prenatal finding of a small supernumerary marker chromosome (sSMC) is a challenge for genetic counseling. Our analytic algorithm is based on sSMC frequencies and multicolor FISH to accelerate the procedure. The chromosomal origin, size, and degree of mosaicism of the sSMC then determine the prognosis. We illustrate the effectiveness on 4 prenatally identified de novo mosaic sSMCs derived from chromosomes 13/21, X, 3, and 17. Three sSMC carriers had a good prognosis and apparently healthy children were born, showing no abnormality till the last examination at the age of 4 years. One case had a poor prognosis, and the parents decided to terminate the pregnancy. Our work contributes to the laboratory and clinical management of prenatally detected sSMCs. FISH is a reliable method for fast sSMC evaluation and prognosis assessment; it prevents unnecessary delays and uncertainty, allows informed decision making, and reduces unnecessary pregnancy terminations.

Authors

  • Tesner, P avel ;
  • Vlckova, Marketa ;
  • Drabova, Jana ;
  • Vseticka, Jan ;
  • Klimova, Anna ;
  • Lastuvkova, Jana ;
  • Zidovska, Jana ;
  • Kremlikova Pourova, Radka ;
  • Hancarova, Miroslava ;
  • Sedlacek, Zdenek ;
  • Kocarek, Eduard
1 Citation0 Mentions13% FAIR0.7 Dataset Index
10.6084/m9.figshare.6269774January 2018

Supplementary Material for: Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers

he prenatal finding of a small supernumerary marker chromosome (sSMC) is a challenge for genetic counseling. Our analytic algorithm is based on sSMC frequencies and multicolor FISH to accelerate the procedure. The chromosomal origin, size, and degree of mosaicism of the sSMC then determine the prognosis. We illustrate the effectiveness on 4 prenatally identified de novo mosaic sSMCs derived from chromosomes 13/21, X, 3, and 17. Three sSMC carriers had a good prognosis and apparently healthy children were born, showing no abnormality till the last examination at the age of 4 years. One case had a poor prognosis, and the parents decided to terminate the pregnancy. Our work contributes to the laboratory and clinical management of prenatally detected sSMCs. FISH is a reliable method for fast sSMC evaluation and prognosis assessment; it prevents unnecessary delays and uncertainty, allows informed decision making, and reduces unnecessary pregnancy terminations.

Authors

  • Tesner, P avel ;
  • Vlckova, Marketa ;
  • Drabova, Jana ;
  • Vseticka, Jan ;
  • Klimova, Anna ;
  • Lastuvkova, Jana ;
  • Zidovska, Jana ;
  • Kremlikova Pourova, Radka ;
  • Hancarova, Miroslava ;
  • Sedlacek, Zdenek ;
  • Kocarek, Eduard
1 Citation0 Mentions13% FAIR0.7 Dataset Index
10.6084/m9.figshare.6269774.v1January 2018