Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome.
Two unrelated children presented with similar clinical features (facial dysmorphism and multiple joint dislocations) suggesting the diagnosis of Larsen syndrome. Both carried an inherited unbalanced translocation resulting in partial trisomy 1q and partial monosomy 6p. Analysis of skin collagen from one of the probands disclosed a decreased alpha 1/alpha 2 chain ratio of collagen type I, increased thermal stability and increased hydroxylation of proline and lysine. The present findings suggest that, as a result of the chromosome rearrangements, both patients have a mutation on a gene involved in collagen production, located either on chromosome 1q or, more probably, on 6p. It is furthermore suggested that other cases of Larsen syndrome are the result of a similar mutation.
Pierquin
G
G
Centre de Génétique-ULB, Université Libre de Bruxelles, Belgium.
Van Regemorter
N
N
Hayez-Delatte
Fourneau
C
C
Bormans
J
J
Foerster
M
M
Damis
E
E
Cremer-Perlmutter
N
N
Lapiere
C M
CM
Vamos
E
E
D000328:Adult; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D002896:Chromosomes, Human, Pair 6; D003094:Collagen / Q000378:metabolism; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D004204:Joint Dislocations / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012867:Skin / Q000378:metabolism; D013577:Syndrome; D014314:Trisomy
D003094:Collagen