Trisomy 6qter resulting from a familial (6;10) (q23;q26) translocation.
An infant deceased at 2 months of age was found to have a 46,XY,-10, +der(10),t (6;10) (q23;q26) mat karyotype. Since the clinical findings were similar to those of the trisomy 6qter syndrome, the present observation agrees with the assignment of the 6q23----qter segment as the pathogenetic determiner of this entity.
D002871:Chromosome Banding; D002879:Chromosomes, Human, Pair 10; D002896:Chromosomes, Human, Pair 6; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy