Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.

doi:10.1136/jmg.40.4.282

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Article

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.

Journal of medical genetics - 1 Apr 2003

Faivre L, Le Merrer M, Al-Gazali L I, Ausems M G E M, Bitoun P, Bacq D, Maroteaux P, Munnich A, Cormier-Daire V

Abstract excerpt

Desbuquois dysplasia is a rare autosomal recessive chondrodysplasia characterised by short stature, joint laxity, facial dysmorphism, a "Swedish key" appearance of the proximal femur, advanced carpal and tarsal bone age, and hand anomalies consisting of phalangeal dislocations and an extra ossification centre distal to the second metacarpal. However, the latter changes are not consistently observed in all...

Topics

Chromosome Mapping
Chromosomes, Human, Pair 17
Consanguinity
Family Health
Female
Genetic Linkage
Genetic Predisposition to Disease
Haplotypes
Homozygote
Humans
Lod Score
Male
Microsatellite Repeats
Osteochondrodysplasias

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Identifiers

PMID: 12676900
DOI: 10.1136/jmg.40.4.282
PMCID: PMC1735409

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