The principle and technique of
drawing family pedigree
Speaker: Prof. Mei-Chih Huang
Date: September, 2013
Objectives
• Understand the application field of family
pedigree.
• Understand the pedigree standardized process.
• Familiar the definition of pedigree’s symbol
and line.
• Familiar the technique of asking and drawing
family pedigree.
• Drawing the family pedigree.
The importance of family pedigree and
application
• The universal communication tool between different
specialty.
• Clinical care
-Help diagnose and confirm genotype in order to find the
potential case.
-Represent family member’s health status and pregnancy/
reproductive situation.
• Research
-Help find the cause of genetic disease.
• Teaching
-Help train student’s family evaluation ability based on the
data collection and find the risk factor that affect health.
Standardization reason
• There are discrepancies even in common
symbols used to record a genetic family history.
• No consensus was noted in recording
situations representing assisted reproductive
technologies.
• Standardization of pedigree nomenclature is
important, much as it was useful to develop
universal cytogenetic nomenclature.
（Bennett et al., 1995 2008; Rice, 1946）
Standardization reason
• In 1995, the Pedigree Standardization Task Force
(PSTF) of the National Society of Genetic
Counselors (NSGC) proposed a system of
pedigree nomenclature.(now called the Pedigree
Standardization Work Group or PSWG)
• Frequent usage, consistency among symbols,
computer compatibility, and ability to adapt to the
rapid changes in human genetics were considered.
（Bennett et al., 1995 2008; Rice, 1946）
Common Pedigree Symbols, Definitions,
and Abbreviations.
Common Pedigree Symbols,
Definitions, and Abbreviations.
Pedigree Line Definitions
Pedigree Line Definitions
Pedigree Line Definitions
Assisted Reproductive Technology
Symbols and Definitions.
Assisted Reproductive Technology
Symbols and Definitions.
張性夫婦，先生62歲，太太60歲，曾懷孕4次，
育有三男兩女。長女為領養現40歲未婚，長男37
歲，太太35歲，懷孕2次，第一次懷孕時超音波
檢查異常，染色體檢查為三染色體18症，於20週
時實施人工流產，現懷孕中，胎兒性別未知。次
男35歲未婚，次女33歲先生35歲，曾懷孕1次有
一對雙胞胎3歲女兒。三男30歲和29歲之妻子以
生殖科技接受精子銀行之精子，目前懷孕中，胎
兒性別不明。
張先生的父親於78歲時因肝癌過世，母親今
年86歲，患有高血壓。張先生的大哥44歲時因糖
尿病過世，大姊63歲未婚，小妹60歲，患有高血
壓。
張太太的父親80歲時過世，患有腦血管疾
病，母親83歲，患有糖尿病及高血壓。大弟53
歲、大妹50歲、二妹48歲，小弟45歲患有糖尿
病。
案例分析
I
62
86
84
72
血友病
糖尿病
II
65
67
III
44 卵巢癌
62
62
57
55
54
c
46
44
30
39
39
36
車禍
IV
13 IV-1
6
IV-2
10
IV-3
7
IV-4
32
Reference
Reference
王作仁 (1987)．家譜構成要訣．遺傳諮詢與家譜構成（pp. 65-75）．台北：聯經。
林佳霓、潘慧萍、黃美智（2008）‧繪出世界共通圖畫-家族圖譜之構成與評估‧護理雜誌 55（1）, 87-93‧
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Bennett, R.L., French, K. S., Resta, R. G., & Doyle, D. L. (2008). Standardized human pedigree nomenclature: Update
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Beauchesne, M., Kelley, B., & Gauthier, M.A. (1997). The genogram: A health assessment tool. Nurse Educator,
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Bennett, R.L., Steinhaus, K.A., Uhrich, S.B., O'Sullivan, C.K., Resta, R.G., Lochner-Doyle, D., Markel, D.S., Vincent,
V., & Hamanishi, J. (1995). Recommendations for standardized human pedigree nomenclature. Pedigree
Standardization Task Force of the National Society of Genetic Counselors Comment in: American Journal of
Human Genetics, 56(3), 745-752.
Curtis, D. (1990). A program to draw pedigrees using LINKAGE or LINKSYS data. Annals of Human Genetics,
54(4), 365-7.
Gelehrter, T.D., Collins, F.S., & Ginsburg, D. (1998). Principles of medical genetics (2nd ed., p. 24). Baltimore:
Williams & Wilkins.
Jorde, L.B., Carey, J.C., Bamshad, M.J., & White R.L. (1999). Medical genetics (2nd ed., p. 64). New York: Mosby.
Rich, L.R. (1946). Symbols for human Pedigree charts. Journal of Heredity, 37, 11-15.