title: Genetic mapping of Xp22.12-p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL).
abstract: Spondyloepiphyseal dysplasia tarda (SEDL) is an X-linked recessive disorder characterized in affected males by short stature resulting from a growth defect of the vertebral bodies. We have extended our earlier studies by analyzing 15 families with newly identified microsatellite DNA markers; analysis of recombination events with these markers indicates that the gene responsible for SEDL is located in Xp22 between DXS 16 and DXS 987 on an interval spanning approximately 2 Mb.
authors.affiliation: Inserm U 393, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: S
authors.initials: S
authors.lastname: Heuertz
authors.forename: A
authors.initials: A
authors.lastname: Smahi
authors.forename: A O
authors.initials: AO
authors.lastname: Wilkie
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
authors.forename: P
authors.initials: P
authors.lastname: Maroteaux
authors.forename: M C
authors.initials: MC
authors.lastname: Hors-Cayla
mesh_terms: D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree; D011995:Recombination, Genetic; D014960:X Chromosome