Mosaic trisomy 8

Incidence

 * 1/30,000 live births
 * 5M:1F

Associated Birth Defects

 * Cardiac Defects
 * Renal
 * Spine

Facial Features

 * High forehead
 * coarse features
 * scaphocephaly

Extremities

 * Absent or hypoplastic patellae
 * Deep longitudinal creases on soles of feet
 * Contractures (fingers, toes)

Neurological

 * Developmental Delay
 * Intellectual Disability (IQ ~40-75 to normal)
 * Agenesis of the Corpus Callosum

Malignancies

 * Hematological (i.e. leukemia)
 * Other

Prognosis

 * Phenotype severity does not correlate to mosaic burden
 * May require skin biopsy to diagnose