Chromosome 21: a small land of fascinating disorders with unknown pathophysiology.
In the year 2000 we celebrated the sequencing of the entire long arm of human chromosome 21. This achievement now provides unprecedented opportunities to understand the molecular pathophysiology of trisomy 21, elucidate the mechanisms of all monogenic disorders of chromosome 21, and discover genes and functional sequence variations that predispose to common complex disorders. All of that requires the functional analysis of gene products in model organisms, and the determination of the sequence variation of this chromosome.
Antonarakis
Stylianos E
SE
Division of Medical Genetics, University of Geneva Medical School and University Hospitals, Switzerland. Stylianos.Antonarakis@medecine.unige.ch
Lyle
Robert
R
Deutsch
Samuel
S
Reymond
Alexandre
A
D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21; D004314:Down Syndrome / Q000235:genetics; D006801:Humans; D008957:Models, Genetic; D016366:Open Reading Frames; D020641:Polymorphism, Single Nucleotide