About this Biochemistry, Genetics and Molecular Biology article
Paternal UPD14 is responsible for a distinctive malformation complex by Kenji Kurosawa; Hiroyuki Sasaki; Yoshiaki Sato; Michiko Yamanaka; Mitsumasa Shimizu; Yuji Ito; Torayuki Okuyama; Mari Matsuo; Kiyoshi Imaizumi; Yoshikazu Kuroki; Gen Nishimura is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
## Abstract 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 karyotype. 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. © 2002 Wiley‐Liss, Inc.
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- Author
- Kenji Kurosawa; Hiroyuki Sasaki; Yoshiaki Sato; Michiko Yamanaka; Mitsumasa Shimizu; Yuji Ito; Torayuki Okuyama; Mari Matsuo; Kiyoshi Imaizumi; Yoshikazu Kuroki; Gen Nishimura
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)
- Published
- 2002
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)