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

  • Conference paper
The Molecular Biology of Down Syndrome

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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).

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Authors and Affiliations

  1. Faculté de Médecine Necker Enfants Malades, CNRS UMR 8602, Paris, France

    G. Ait-Ghezala, P.-M. Sinet & N. Créau

  2. Laboratoire d’Histo-Embryologie-Cytogénétique, Hôpital Necker Enfants-Malades, 149 rue de Sèvres, F-75743, Paris Cedex 15, France

    Dr. P. Gosset

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  1. Dr. P. Gosset
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  2. G. Ait-Ghezala
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  3. P.-M. Sinet
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  4. N. Créau
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Editors and Affiliations

  1. Universitäts-Kinderklinik, Wien, Österreich

    G. Lubec

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© 1999 Springer-Verlag Wien

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Gosset, P., Ait-Ghezala, G., Sinet, PM., Créau, N. (1999). Isolation and analysis of chromosome 21 genes potentially involved in Down Syndrome. In: Lubec, G. (eds) The Molecular Biology of Down Syndrome. Springer, Vienna. https://doi.org/10.1007/978-3-7091-6380-1_12

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  • DOI: https://doi.org/10.1007/978-3-7091-6380-1_12

  • Publisher Name: Springer, Vienna

  • Print ISBN: 978-3-211-83377-3

  • Online ISBN: 978-3-7091-6380-1

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