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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.

Type

Journal article

Journal

Hum genet

Publication Date

10/1995

Volume

96

Pages

407 - 410

Keywords

Chromosome Mapping, Female, Genetic Linkage, Humans, Male, Osteochondrodysplasias, Pedigree, Recombination, Genetic, X Chromosome