A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome.
A female infant with Cornelia de Lange syndrome and severe limb reduction defects is described. Chromosome analysis showed a de novo translocation with breakpoints at 3q26.3 and 17q23.1. This is the first reported case of a de novo translocation associated with this syndrome.
Ireland
M
M
Department of Human Genetics, University of Newcastle upon Tyne.
English
C
C
Cross
I
I
Houlsby
W T
WT
Burn
J
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002886:Chromosomes, Human, Pair 17 / Q000648:ultrastructure*; D002893:Chromosomes, Human, Pair 3 / Q000648:ultrastructure*; D003635:De Lange Syndrome / Q000235:genetics*; D004480:Ectromelia / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D014178:Translocation, Genetic