Severe musculoskeletal phenotype associated with an unbalanced t(6;10) translocation: clarification of the locus for this phenotype on distal 6p.

Abstract excerpt

Larsen syndrome is a congenital condition consisting of multiple large joint dislocations associated with a distinctive facial appearance and frequently other abnormalities. The syndrome is probably genetically heterogeneous, with both dominant and recessive inheritance reported. Previously two cases have been reported where a Larsen-like syndrome was associated with unbalanced chromosomal translocations...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Chromosomes, Human, Pair 10
• Share to Chromosomes, Human, Pair 6