IIHG How To Draw A Pedigree - 0
IIHG How To Draw A Pedigree - 0
IIHG How To Draw A Pedigree - 0
Please follow the instructions below when creating a pedigree. Additional resources can be
found here: http://www.nsgc.org/About/FamilyHistoryTool/tabid/226/Default.aspx
Bennett, R.L., French, K.S., Resta, R.G. & Doyle, D.L. Standardized human pedigree
nomenclature: update and assessment of the recommendations of the National
Society of Genetic Counselors. J Genet Couns 17, 424-33 (2008).
General guidelines:
It is helpful to start in the middle of the page when drawing a pedigree.
Male partners are to the left of female partners.
Siblings are drawn from oldest to youngest with the oldest listed on the left and the
youngest on the right.
If there are multiple disorders or diseases, use quadrants or different shading (solid,
cross-hatching) to indicate each disease (see examples)
Instructions on How to Draw a Pedigree
Begin by drawing a solid square (male) or circle (female) for the first person with disease
who presented to medical attention. This individual is called the proband. Place an arrow
on the lower left corner of this individual to indicate he/she is the proband.
CM
CM
55 y.o.
Indicate the disease or disorder the individual has along with the age of onset below the
symbol.
CM
55 y.o.
dx. Meniere’s disease 45 y.o.
Next, draw the person’s parents. To indicate partners/marriage draw a horizontal line
connecting the two symbols (see below). If the individuals are consanguineous (i.e.
related) indicate consanguinity with a double horizontal line. If the degree of consanguinity
is not clear on the pedigree, please write above the relationship line, i.e. “2nd cousins.”
2nd cousins
CM CM
55 y.o. 55 y.o.
dx. Meniere’s disease 45 y.o. dx. Meniere’s disease 45 y.o.
Add the parents current age, or age at death (d. age or year) with cause of death. Also,
indicate any diagnoses (dx. Disease X) the individuals may have along with the age at
diagnosis (dx. Disease X 50y.o.).
2nd cousins
CM CM
55 y.o. 55 y.o.
dx. Meniere’s disease 45 y.o. dx. Meniere’s disease 45 y.o.
Draw any siblings in birth order from left (oldest) to right (youngest). Siblings are
connected by a horizontal line above the symbols, with vertical lines connecting the symbols
to the horizontal line. Leave space to add any partners and children.
d. MI 80 y.o. 76 y.o.
CM
55 y.o. 51 y.o. 40 y.o.
dx. Meniere’s disease 45 y.o.
Add aunts, uncles, grandparents in the same manner. All affected individuals should be
included in the pedigree and as many unaffected individuals as possible (parents,
grandparents, and siblings of any affected individual).
For each individual add the following below their symbol;
Initials or generation number
Current age (if known)
Any diagnoses the individual has received along with the age of onset of the disorder.
An asterisk (*) next to individuals willing to participate in the study.
**The current place of residence (City, State) for each individual willing to participate in the
study can be recorded on the pedigree, or must be provided to the IIHG as a separate list.
At the top of the pedigree write the ethnicity of each grandparent. Record the date the
pedigree was obtained.
Obtained 1/23/2012
Finally, draw a key in the lower left corner indicating what the shading represents.
Key
Menière’s disease (MD)
Example Pedigrees
Autosomal Dominant Example: Marfan Syndrome
no consanguinity
I-1 I-2
stroke 46 y.o. dx. Marfan Syndrome 25y.o.
d. heart attack 50y.o. d. 62 y.o. aortic rupture
smoker
Key
Marfan syndrome
heart attack
stroke
Basic Pedigree Symbols
Pregnancy symbols:
Use a diamond if the gender is not yet known, a circle or a square if the gender is
known.
A triangle is used for any pregnancy not carried to term.
Include gestational age, or estimated date of delivery (EDD) for all pregnancies.
Pregnancy (P), Stillbirth (SB), Spontaneous abortion (SAB), Termination of
pregnancy (TOP), Ectopic pregnancy (ECT).
Gender unknown Female fetus Male fetus
P P P
SPAB <10wks
TOP 12wks
ECT
Key
High cholesterol
Type II Diabetes
Basic Pedigree Lines
Marriage/Mating Line: horizontal line connecting 2 symbols at the center of each symbol
Separated, Divorce, Relationship no longer exists Line: horizontal line connecting 2 symbols
with 2 diagonal hash marks.
Offspring Line: Vertical line from the center of the mating line to the center of the offspring
symbol or to the sibling line.
1 male child
Mike and Jane have one son, and Jane has a daughter from a previous marriage.
Mike Jane
Sibling Line: Horizontal line above the offspring and connected by vertical lines. Example:
brother and sister siblings.
Sibling line
Twins: Indicated by two diagonal vertical lines originating from the same point.
No children: A vertical line with 2 hash marks at the end. Indicate if an adult does not have
children by choice (c), infertility (i).
c i