r(18)

Epidemiology and Etiology:

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Common sites:

·

Gross features:

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Histologic features:

·

Immunophenotype:

Marker:

Sensitivity:

Specificity:

Molecular features:

· Loss of 18q material is usually seen (limited numbers)

· Loss of 18p material is variable (limited numbers)

Other features:

· Mosaic parent can be phenotypically normal

· High risk of having an abnormal r(18) child

· Similar to distal del(18)(q?)

References:

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