Chromosome 21 and Down Syndrome: The Post-Sequence Era

  1. S.E. ANTONARAKIS,
  2. A. REYMOND,
  3. R. LYLE,
  4. S. DEUTSCH, and
  5. E.T. DERMITZAKIS
  1. Division of Medical Genetics, NCCR Frontiers in Genetics, University of Geneva Medical School and University Hospitals, Switzerland

This extract was created in the absence of an abstract.

Excerpt

Trisomy 21, the etiology of Down syndrome (DS), isthe most common cause of genetic mental retardation,and a model for the numerous aneuploidy syndromes. DSwas first described by John Langdon Down in 1866(Down 1866), and the trisomy for a group G acrocentricchromosome was recognized by Lejeune et al. in 1959(Lejeune et al. 1959). Many recent studies have used human chromosome 21 as a model for genomic studies suchas determination of haplotype block (Patil et al. 2001),identification of transcribed sequences (Kapranov et al.2002), and comparative genomics (Frazer et al. 2003)...

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