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Indian Pediatrics

, Volume 56, Issue 9, pp 789–791 | Cite as

Chinese Siblings with Prader-Willi Syndrome Inherited from Their Paternal Grandmother

  • Dai Yang-Li
  • Huang Ke
  • Zou Chao-ChunEmail author
  • Dong Guan-Ping
Case Report
  • 1 Downloads

Abstract

Background

Prader-Willi syndrome (PWS) is a complex neurobehavioral disorder caused by failure of expression of paternally inherited genes in the PWS region of chromosome 15.

Case characteristics

Two siblings who both met the inclusion criteria for clinical diagnosis of PWS during neonatal period.

Outcome

Molecular genetic analysis demonstrated a 417-kb microdeletion within the 15q11.2 region inherited from siblings’ paternal grandmother, involving key genes of PWS, except for UBE3A, which may explain why their father and paternal grandmother had a normal phenotype.

Conclusion

The findings may be helpful for better understanding of the underlying mechanism of this rare imprinting defect.

Keywords

Microdeletion Mode of inheritance Molecular genetic analysis 

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Notes

Funding: This work is supported, in part, by grants from the National Natural Science Foundation of China (Grant No. 81170787, 81371215, 81670786), and the Zhejiang Provincial Program for the Cultivation of High-Level Innovative Health Talents (2014).

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Copyright information

© Indian Academy of Pediatrics 2019

Authors and Affiliations

  • Dai Yang-Li
    • 1
  • Huang Ke
    • 1
  • Zou Chao-Chun
    • 2
    Email author
  • Dong Guan-Ping
    • 1
  1. 1.Department of EndocrinologyChildren’s Hospital Zhejiang University School of MedicineZhejiangChina
  2. 2.Department of Child HealthcareChildren’s Hospital Zhejiang University School of MedicineZhejiangChina

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