GENETIC-MAPPING OF XP22.12-P22.31, WITH A REFINED LOCALIZATION FOR SPONDYLOEPIPHYSEAL DYSPLASIA (SEDL)

Authors
HEUERTZ S SMAHI A WILKIE AOM LEMERRER M MAROTEAUX P HORSCAYLA MC
Citation
S. Heuertz et al., GENETIC-MAPPING OF XP22.12-P22.31, WITH A REFINED LOCALIZATION FOR SPONDYLOEPIPHYSEAL DYSPLASIA (SEDL), Human genetics, 96(4), 1995, pp. 407-410
Citations number
11
Categorie Soggetti
Genetics & Heredity
Journal title
Human genetics → ACNP
ISSN journal
03406717
Volume
96
Issue
4
Year of publication
1995
Pages
407 - 410
Database
ISI
SICI code
0340-6717(1995)96:4<407:GOXWAR>2.0.ZU;2-G
Abstract
Spondyloepiphyseal dysplasia tarda (SEDL) is an X-linked recessive dis order 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 indic ates that the gene responsible for SEDL is located in Xp22 between DXS 16 and DXS 987 on an interval spanning approximately 2 Mb.