Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome

S Szpiro-Tapia; A Sefiani; M Guilloud-Bataille; S Heuertz; B Le Marec; J Frézal; P Maroteaux; M C Hors-Cayla

doi:10.1007/BF00283731

Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome

Hum Genet. 1988 Dec;81(1):61-3. doi: 10.1007/BF00283731.

Authors

S Szpiro-Tapia¹, A Sefiani, M Guilloud-Bataille, S Heuertz, B Le Marec, J Frézal, P Maroteaux, M C Hors-Cayla

Affiliation

¹ Unité de Recherches de Génétique Médicale, INSERM U. 12, Hôpital des Enfants-Malades, Paris, France.

PMID: 3198127
DOI: 10.1007/BF00283731

Abstract

A linkage study of six families with spondyloepiphyseal dysplasia tarda (SEDL) has been performed. A linkage to site DXS41 (theta = 0.08; z = 3.07) and DXS92 (theta = 0.05; z = 2.95) has been established. We propose that the SEDL locus lies on the distal part of the short arm of the X chromosome.

MeSH terms

Chromosome Mapping
DNA Probes
Female
Genetic Linkage*
Genetic Markers*
Humans
Male
Osteochondrodysplasias / genetics*
Pedigree
X Chromosome*

Substances

DNA Probes
Genetic Markers