Send to:

Choose Destination
See comment in PubMed Commons below
Am J Hum Genet. 1995 Jul;57(1):62-71.

Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region.

Author information

  • 1Centre National de la Recherche Scientifique, URA 1335, Hôpital Necker-Enfants Malades, Paris, France.


We compared the phenotypes, karyotypes, and molecular data for six cases of partial monosomy 21. Regions of chromosome 21, the deletion of which corresponds to particular features of monosomy 21, were thereby defined. Five such regions were identified for 21 features. Ten of the features could be assigned to the region flanked by genes APP and SOD1: six facial features, transverse palmar crease, arthrogryposis-like symptoms, hypertonia, and contribution to mental retardation. This region, covering the interface of bands 21q21-21q22.1, is 4.7-6.4 Mb long and contains the gene encoding the glutamate receptor subunit GluR5 (GRIK1).

[PubMed - indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for PubMed Central
    Loading ...
    Write to the Help Desk