1
Conclusions: Mothers' knowledge about the screening tests for trisomy 21 remains fragmentary.
2
Three-year-old Isabella Santorum suffers from a rare genetic condition called trisomy 18.
3
No correlation was found between trisomy 12 and the patients' clinical characteristics.
4
Objective: To assess mothers' knowledge of screening tests for trisomy 21.
5
Such a finding would normally suggest a postzygotic origin of the trisomy 21.
6
Terminal 17q trisomy is very rare but a recognizable genetic syndrome.
7
Here we dissect the cellular and molecular implications of this trisomy in hPSCs.
8
Conclusions: FISH-based scanning can identify trisomy 21 pregnancies by analysis of routine cervical brushings.
9
The clinical phenotype of both cases is compatible with the partial trisomy 9p syndrome.
10
Our study supports offering NIPT to pregnant women at increased risk for fetal trisomy.
11
Five patients had trisomy 13 at diagnosis of acute leukemia.
12
Our results indicate that mitotic nondisjunction leading to trisomy 6 precedes the isochromosome formation.
13
This is the first reported instance of trisomy 9p occurring in two successive generations.
14
Fibroblasts may be the tissue of choice for detection of low-level trisomy 16 mosaicism.
15
Pure partial trisomy of chromosome 21 is a rare event.
16
Pure trisomy 16 was found in cells from the placenta.
