XXX

 

Epidemiology and Etiology:

    • 1:1000 female infants

 

Common sites:

    •  

 

Gross features:

    • Generally unremarkable
    • Tall maybe
    • Normal pubertal development

 

Histologic features:

    •  

 

Immunophenotype:

Marker:

Sensitivity:

Specificity:

 

 

 

 

Molecular features:

    •  

 

Other features:

    • Often not recognized until later in life when behavioural changes may arise
    • Clinical features:
      • Decreased intelligence
        • Learning difficulty is likely – need additional teaching usually
          • But still in mainstream education
        • Verbal IQ reduced 20 points
        • Speech usage and comprehension are impaired (>50%)
        • Difficulty forming interpersonal relationships
      • Gross and fine motor skills somewhat impaired
        • Awkward and poorly coordinated child
    • XXX mother, risk of aneuploid child:
      • Not increased above normal

 

References:

    • Gardner RJM, Sutherland GR.  Oxford Monographs on Medical Genetics No. 29: Chromosome Abnormalities and Genetic Counseling.  2nd ed. (1996)
    • Gersen SL, Keagle MB.  The Principles of Clinical Cytogenetics, 2nd ed.  (2005)