title: Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region.
abstract: 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).
authors.affiliation: Centre National de la Recherche Scientifique, URA 1335, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: Z
authors.initials: Z
authors.lastname: Chettouh
authors.forename: M F
authors.initials: MF
authors.lastname: Croquette
authors.forename: B
authors.initials: B
authors.lastname: Delobel
authors.forename: S
authors.initials: S
authors.lastname: Gilgenkrants
authors.forename: C
authors.initials: C
authors.lastname: Leonard
authors.forename: C
authors.initials: C
authors.lastname: Maunoury
authors.forename: M
authors.initials: M
authors.lastname: Prieur
authors.forename: M O
authors.initials: MO
authors.lastname: Rethoré
authors.forename: P M
authors.initials: PM
authors.lastname: Sinet
authors.forename: M
authors.initials: M
authors.lastname: Chery
mesh_terms: D000293:Adolescent; D000328:Adult; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D013482:Superoxide Dismutase / Q000235:genetics*
chemical_list: D016564:Amyloid beta-Protein Precursor; D013482:Superoxide Dismutase