16p11 16p11상실/복제 증후군, 16p11 Deletion/Duplication syndrome

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16p11상실/복제 증후군, 16p11 Deletion/Duplication syndrome


염색체 16의 일부 미세상실 또는 복제로 생기는 유전병이다.

유병율은 10,000 출생아 중 1명꼴이다.

증상 징후

비만키다리백내장심장기형이성형태 얼굴두드러지게 나온 앞이마정신분열발육 지연뇌전증지능장애언어장애 등 증상 징후가 생길 수 있다.


증상 징후 병력 진찰소견능 종합해서 이 병을 의심하면 FISH, MLPA, PCR, CGH 등 검사로 진단한다.


증상 징후에 따라 치료한다.

16p11 Deletion/Duplication syndrome,

16p11 Deletion/Duplication syndrome


It is an inherited disease caused by a small loss or duplication of part of chromosome 16. The prevalence is 1 in 10,000 live births.

Symptoms Signs

Obesity, long legs, cataracts, heart deformity, heteromorphic face, prominent forehead, schizophrenia, growth retardation, epilepsy, intellectual disability, speech disorders, etc. may occur.


Symptoms, signs, history, examination, and findings are combined to diagnose this disease with tests such as FISH, MLPA, PCR, and CGH.

Treat symptomatically as indicated.

소스 와 참조문헌:

  • The michael J. Bresnan Child Neurology course. Continuing Medical Education, Boston Children’s Hospital, Harvard Medical School. September 2014
  • Handbook of pediatric Neurology Katherine B. Sims and etc
  • Nelson Textbook of Pediatrics, 19th Edi, Kliegman and Et
  • Handbook of Pediatric neurology, Katherine B. Sims. MD
  • The Harriet Lane Handbook 19th ed. Johns Hopkins Hospital, Branden Engorn, MD, Jamie Flerlage, MD
  • 소아과학 대한 교과서 홍창의 외
  • Epilepsy Foundation, New England and Conn USA
  • Atlas of Pediatric physical diagnosis, Edited by Basil J. Zitelli and et
  • 소아가정간호백과 이상원청문각
  • Epilepsy 2010
  • Gene Review: Wolf-Hirschhorn Syndrome
  • Genetic Testing Registry: 4p partial monosomy syndrome
  • MedlinePlus Encyclopedia: Epilepsy
  • 그 외

Copyright ⓒ 2014 John Sangwon Lee, MD., FAAP

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