Upd(14)pat

Epidemiology and Etiology:

• Many are associated with a homologous or non-homologous Robertsonian translocation

Common sites:

Gross features:

• skeletal abnormalities
• short-limb dwarfism
• narrow thorax (coat hanger sign)
• scoliosis
• dysmorphic facies
• polyhydramnios
• IUGR
• cardiomyopathy

Histologic features:

Immunophenotype:

Marker:

Sensitivity:

Specificity:

Molecular features:

Other features:

• more severe phenotype than upd(14)mat
• most patients die shortly after birth or in infancy
• clinical features:
• mental retardation
• respiratory difficulties (small thorax?)

References:

• ACMG statement on diagnostic testing for UPD (2001)