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

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

Abstract

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).

Keywords

Mental Retardation Down Syndrome Transcriptional Unit Partial Trisomy Gene KIR4 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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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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