r(6)

 

Epidemiology and Etiology:

·         De novo

·         No cases of parent-child transmission known

 

Common sites:

·          

 

Gross features:

·         Hydrocephalus is common

·         Variable:

·         Microcephaly

·         malformations

 

Histologic features:

·          

 

Immunophenotype:

Marker:

Sensitivity:

Specificity:

 

 

 

 

Molecular features:

·          

 

Other features:

·         No cases of parent-child transmission known

·          

 

References:

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