Isolation and analysis of chromosome 21 genes potentially involved in Down Syndrome

  • P. Gosset
  • G. Ait-Ghezala
  • P.-M. Sinet
  • N. Créau
Conference paper


Down syndrome is the most common birth defect (1 in 700 newborns) and the most important cause of mental retardation. This disease is characterized by a complex phenotype, mainly including morphological abnormalities of the head and limbs, short stature, hypotonia, hyperlaxity of ligaments, visceral malformations (particularly heart defects), and a constant mental retardation. In most cases, it results from the presence of an entire chromosome 21 in excess in all cells of the afflicted individuals. Phenotype-genotype correlation of rare patients with partial trisomy 21 identified a small region of chromosome 21 on 21q22.2, duplication of which is associated with many features of the syndrome (Rahmani et al., 1989, 1990). This region, named Down syndrome Chromosome Region 1 or DCR1, is associated with short stature, hypotonia, joint hyperlaxity, face and limbs dysmorphy, and mental retardation (Delabar et al., 1993).


Mental Retardation Down Syndrome Transcriptional Unit Partial Trisomy Gene KIR4 
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Copyright information

© Springer-Verlag Wien 1999

Authors and Affiliations

  • P. Gosset
    • 2
  • G. Ait-Ghezala
    • 1
  • P.-M. Sinet
    • 1
  • N. Créau
    • 1
  1. 1.Faculté de Médecine Necker Enfants MaladesCNRS UMR 8602ParisFrance
  2. 2.Laboratoire d’Histo-Embryologie-CytogénétiqueHôpital Necker Enfants-MaladesParis Cedex 15France

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