Upd14

Molecular Etiology

 * 14q32.2
 * Imprinting Disorder

Paternal UPD Features

 * Prenatal Findings
 * small chest
 * polyhydramnios
 * abdominal wall defects


 * High birth weight
 * bell-shaped chest
 * respiratory failure
 * contractures (fingers)
 * high forehead
 * hypertrichosis
 * micrognathia
 * blepharophimosis

Maternal UPD Features

 * IUGR
 * Growth Retardation
 * Hypotonia
 * dysmorphia
 * small hands
 * precocious puberty

Prognosis

 * Paternal UPD = poor
 * Maternal UPD = variable, nearly normal to PWS-esque