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Severe musculoskeletal phenotype associated with an unbalanced t(6;10) translocation: Clarification of the locus for this phenotype on distal 6p
Author(s) -
James Paul A.,
Aftimos Salim,
Oei Paul
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20079
Subject(s) - chromosomal translocation , phenotype , genetics , locus (genetics) , breakpoint , monosomy , biology , karyotype , trisomy , partial trisomy , chromosome , gene
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,der(6),t(6:10)(p25;q25.2) and the breakpoint at 6p25 was confirmed by FISH using YAC probes (between 6p25 at D6s477/F13A1 and 6p24 at 6WI13606). Our case provides further evidence for a Larsen‐like locus at distal 6p and reduces the potential critical region. © 2003 Wiley‐Liss, Inc.