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![Page 1: The principle and technique of drawing family pedigree Speaker: Prof. Mei-Chih Huang Date: September, 2013.](https://reader035.fdocuments.us/reader035/viewer/2022062407/56649d175503460f949ecfc6/html5/thumbnails/1.jpg)
The principle and technique of drawing family pedigree
Speaker: Prof. Mei-Chih Huang
Date: September, 2013
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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.
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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.
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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)
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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)
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Common Pedigree Symbols, Definitions, and Abbreviations.
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Common Pedigree Symbols, Definitions, and Abbreviations.
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Pedigree Line Definitions
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Pedigree Line Definitions
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Pedigree Line Definitions
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Assisted Reproductive Technology Symbols and Definitions.
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Assisted Reproductive Technology Symbols and Definitions.
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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。
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c
86 72 84
67
糖尿病
62血友病
65 4462
57 5455
4446 30 39 39
車禍
卵巢癌 62
36 32
I
III
II
IV13 6
案例分析案例分析
10IV-1 IV-2
IV-3 IV-47
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Reference
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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 ‧
[Lin, C. N., Pan, H. P., & Huang, M. C.* (2008). Drawing up pedigrees: Symbols and meanings. The Journal of
Nursing, 55(1), 87-93.]
Bennett, R.L., French, K. S., Resta, R. G., & Doyle, D. L. (2008). Standardized human pedigree nomenclature: Update
and assessment of the recommendations of the national society of genetic conselors. Journal of Genetic
Counseling, 17(5), 424-433.
Beauchesne, M., Kelley, B., & Gauthier, M.A. (1997). The genogram: A health assessment tool. Nurse Educator, 22(3),
9, 16.
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.