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Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region.
Chettouh, Z; Croquette, M F; Delobel, B; Gilgenkrants, S; Leonard, C; Maunoury, C; Prieur, M; Rethoré, M O; Sinet, P M; Chery, M.
Afiliación
  • Chettouh Z; Centre National de la Recherche Scientifique, URA 1335, Hôpital Necker-Enfants Malades, Paris, France.
Am J Hum Genet ; 57(1): 62-71, 1995 Jul.
Article en En | MEDLINE | ID: mdl-7611297
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).
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Superóxido Dismutasa / Cromosomas Humanos Par 21 / Deleción Cromosómica / Mapeo Cromosómico / Precursor de Proteína beta-Amiloide Tipo de estudio: Risk_factors_studies Límite: Adolescent / Adult / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 1995 Tipo del documento: Article País de afiliación: Francia

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Superóxido Dismutasa / Cromosomas Humanos Par 21 / Deleción Cromosómica / Mapeo Cromosómico / Precursor de Proteína beta-Amiloide Tipo de estudio: Risk_factors_studies Límite: Adolescent / Adult / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 1995 Tipo del documento: Article País de afiliación: Francia
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