Paternal UPD14 is responsible for a distinctive malformation complex

Kenji Kurosawa, Hiroyuki Sasaki, Yoshiaki Sato, Michiko Yamanaka, Mitsumasa Shimizu, Yuji Ito, Torayuki Okuyama, Mari Matsuo, Kiyoshi Imaizumi, Yoshikazu Kuroki, Gen Nishimura

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54 Citations (Scopus)


We present a boy and two girls with paternal uniparental disomy of chromosome 14q (patUPD14). One girl had a Robertsonian translocation, whereas two a normal karyo-type. Based on the manifestations of these patients and four previously reported patients who all had translocated chromosome 14, The patUPD14 was thought to constitute a distinctive syndrome. The hallmarks included abdominal muscular defects, skeletal anomalies, and characteristic facies. The phenotype of patUPD14 was consistent with that of a previously reported mouse model, i.e., mouse embryos with paternal uniparental disomy of chromosome 12 that has a region orthologous to that of human chromosome 14. Dose effects of newly recognized imprinted genes on human chromosome 14q32, DLK1 and GTL2, could play an important role in the pathogenic mechanism of the distinctive malformation complex.

Original languageEnglish
Pages (from-to)268-272
Number of pages5
JournalAmerican Journal of Medical Genetics
Issue number3
Publication statusPublished - Jul 1 2002
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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