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Keywords:

  • trisomy 21;
  • chromosome 21;
  • Down syndrome chromosomal region (DSCR)

Abstract

We have analysed the DNA of 2 patients with many manifestations of Down syndrome and partial duplication of distinct regions of chromosome 21, respectively, q11.205[RIGHTWARDS ARROW]q22.300 and q22.300[RIGHTWARDS ARROW]qter (Rahmani et al.: Proceedings of the National Academy of Sciences of the United States of America 86:5958–5962, 1989). Assessment of the copy number of five chromosome 21 sequences (SODI, D21S17, D21S55, ETS2, and D21S15) has shown that D21S55 was duplicated in both cases. The size of the common duplicated region can be estimated between 400 and 3,000 Kb, after the results of pulsed-field gel analysis and from the knowledge of regional mapping of the probes D21S17, D21S55, and ETS2. This region, located on the proximal part of 21q22.3,is postulated to contain genes the overexpression of which plays a major role in the pathogenesis of Down syndrome.