Nature12y
Trisomy 21 Causes Down Syndrome
Trisomy 21 is now accepted to be the major cause of ... because mice carrying translocations from MMU16 display symptoms more like human DS than mice carrying translocations of MMU10 or MMU17.
Nature3y
Diagnosing trisomy 21
Fluorescence in situ hybridization (FISH) of interphase nuclei from a fetus has been used to diagnose trisomy 21. In each cell, there are two green spots (LSI 13 SpectrumGreen probe, Vysis ...
BMJ3mon
Cystic fibrosis in Down’s syndrome—diagnostic pitfalls and implications for the clinician
However, abnormalities of osmolarity and sodium chloride concentrations of sweat were reported in trisomy 21, thus rendering the validity of sweat tests questionable.4 Also, as clinical symptoms such ...
Beth Israel Deaconess Medical Center6y
Chromosomal Abnormalities
The most common differences related to the number of chromosomes include: Down syndrome — also called trisomy 21 because it occurs when there’s an extra copy of chromosome 21 — which causes mild to ...
Wellcome Collection6y
Down syndrome human karyotype 47,XY,+21
Down syndrome karyotype (formerly called trisomy 21 syndrome or mongolism), human male, 47,XY,+21. This male has a full chromosome complement plus an extra chromosome 21. Symptoms include a varying ...
jmg.bmj6y
Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation or mosaicism
The population risk for trisomy 21 is 1 in 700 births but some couples are at a much higher risk owing to parental translocation or mosaicism. We report on the first attempt to carry out ...