Upd(14)mat

Epidemiology and Etiology:

Common sites:

Gross features:

• short stature
• scoliosis
• relative macrocephaly
• minor facial dysmorphic features
• post-pubertal truncal obesity
• small hands and feet

Histologic features:

Immunophenotype:

Marker:

Sensitivity:

Specificity:

Molecular features:

• 14q23-14q24.2 may be important region (one patient)

Other features:

• clinical features:
• hypotonia
• hyperextensible joints
• psychomotor delay variable
• mild developmental delay variable
• precocious puberty

References:

• ACMG Statement on diagnostic testing for UPD (2001)