upd(6)pat

 

Epidemiology and Etiology:

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Common sites:

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Gross features:

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Histologic features:

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Immunophenotype:

Marker:

Sensitivity:

Specificity:

 

 

 

 

Molecular features:

    • ZAC/PLAGL1
      • Good candidate for DMTN
      • Imprinted
      • Cell cycle control

 

Other features:

    • clinical features:
      • transient neonatal diabetes mellitus (DMTN) (20% have upd(6)pat)
      • IUGR
      • macroglossia
      • usually resolves by 6 months
      • note dup(6q) can also give this phenotype

 

References:

    • ACMG Statement on Diagnostic Testing for Uniparental Disomy (2001)
    • Kotzot D. Prenatal testing for uniparental disomy: indications and clinical relevance. Ultrasound Obstet Gynecol. 2008;31(1):100-5.