Tetrasomy 12p

Molecular Etiology

 * isochromosome of duplicated 12p
 * in mosaic form

Associated Birth Defects

 * Cardiac Defects
 * Diaphragmatic Hernia

Facial Features

 * dysmorphic features

Extremities

 * shortening of proximal limbs (rhizomelic shortening)

Endocrine/Growth

 * high birth weight

Neurological

 * hypotonia
 * seizures
 * Intellectual Disability = Profound

Skin/Hair

 * Hypo/Hyperpigmentation Streaks
 * Temporal Balding

Prognosis

 * Shortened Lifespan

Recurrence

 * General Population