Journal article

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

PA James, S Aftimos, P Oei

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WILEY-LISS | Published : 2003

Abstract

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 resulting in partial trisomy 1q and monosomy distal 6p. We now report a child with an unbalanced translocation resulting in a distal 6p deletion and partial trisomy 10q, who has Larsen-like features and has also severe developmental delay. A G-banded preparation revealed a karyotype 46,XX,de..

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