46,r(21)

Epidemiology and Etiology:

·

Common sites:

·

Gross features:

· Short stature

Histologic features:

·

Immunophenotype:

Marker:

Sensitivity:

Specificity:

Molecular features:

·

Other features:

· Subfertility in males maybe

· Normal to mild retardation

· May be normal phenotype

· Difficult to predict due to variability in phenotype

· Parent with 46,r(21)

· Small but unquantified risk of having a child with Down due to 47,+r(21)

References:

· Gardner RJM, Sutherland GR. Chromosome Abnormalities and Genetic Counseling. 2nd ed. Oxford University Press, USA; 1996:496.