Pedigrees

Definition A pedigree is a family tree or chart made of symbols and lines that represent a patient's genetic family history. The pedigree is a visual tool for documenting biological relationships in families and the presence of diseases. Pedigree analysis is an assessment made by a medical professional about genetic risk in a family. Purpose Pedigrees are most often constructed by medical geneticists or genetic counselors. People are referred to genetic professionals because of concern about the presence of a genetic condition in a family member. Pedigree analysis can help identify a genetic condition running through a family, aids in making a diagnosis, and aids in determining who in the family is at risk for genetic conditions. During pedigree construction, the family's beliefs about the cause for a genetic disease or emotional issues related to a diagnosis may be revealed. For instance, family members may experience guilt or shame about passing on a genetic trait. Thus, the communication process involved in taking the family history may allow the health care provider to identify areas in which the patient may need reassurance, education, or emotional support. Why Draw a Pedigree? A typical pedigree is made of information about three generations of a family. The consultand is the person seeking genetic evaluation, counseling, or testing. The proband in a family is the person in a family affected with a genetic disorder. Beginning with the consultand, questions should be asked about the health of first, second, and third degree relatives. First-degree relatives are children, parents, and siblings. Second-degree relatives are half siblings, nieces, nephews, aunts and uncles, grandparents, and grandchildren. Third-degree relatives are first cousins. Important information to obtain on both sides of the family includes:

The biological relationships of individuals in the family Their medical history Many diseases or disorders tend to "run in families", that is, they can be inherited. Some of these disorders are present at birth; others do not appear until late childhood or in adult life. Some genes can cause a specific disorder while others can simply render someone more likely to develop a certain disorder (predisposing genes). The pattern of inheritance of a genetic disorder in the family Variable expression of the disorder, Which family members are at risk, Fertility of individuals (including pregnancies, miscarriages, and stillbirths), Family members who are dead. Cause of death for deceased family members In some disorders, early diagnosis - sometimes even before the symptoms appear - can lead to specific treatment.

An awareness of any disorders, which run a family, may be useful and the early diagnosis, treatment and/or prevention of hereditary disease. ages or dates of birth Presence of any birth disorders, learning problems, chronic illnesses, surgeries, or medical treatments Presence of specific features of a disease if the condition is suspected in the family Genetic testing results if previously performed in the family Pregnancy losses, stillbirths, or infant deaths and causes Infertility in the family ethnic background of the families consanguinity

It is important to establish the accuracy of information given by patients. Therefore, medical records are often requested in order to provide accurate risk assessment.

Pedigree/Inheritance patterns
Autosomal dominant inheritance The pedigree below illustrates the occurrence of an autosomal dominant disorder called neurofibromatosis (NF). NF is characterized by growths under the skin called neurofibromas, dark spots on the skin called caf au lait spots, and an eye finding called Lisch nodules. NF is caused by a single dominant gene on chromosome 17. Each person who is affected with NF has a 50% chance to pass the gene on to each child. The symptoms of NF are variable so that some family members are affected more seriously than others. The pedigree shows that in autosomal dominant inheritance, multiple generations of a family are affected. This is called vertical transmission of a trait through a family. Males and females are equally likely to be affected. In a particular sibship, about half of the siblings are affected. For those traits exhibiting dominant gene action:

Affected individuals have at least one affected parent The phenotype generally appears every generation Two unaffected parents only have unaffected offspring

The following is the pedigree of a trait controlled by dominant gene action.

Autosomal recessive inheritance The pedigree below illustrates the occurrence of an autosomal recessive disorder called cystic fibrosis (CF) in a family. CF is a chronic respiratory disease characterized by digestive problems and a shortened life span. A person with CF has two genes for the condition on chromosome 7. Each parent is an obligate carrier of a gene for the condition. When both parents are carriers, there is a one in four or 25% chance that each child they have together will be affected. In autosomal recessive inheritance, siblings are most often affected rather than people in successive generations. Since siblings are affected, this is called horizontal transmission of a disease in the family. Males and females are equally likely to be affected in this type of inheritance and others in the family have an increased chance to be unaffected carriers of the disease And for those traits exhibiting recessive gene action:

Unaffected parents can have affected offspring Affected progeny are both male and female

The following is the pedigree of a trait controlled by recessive gene action.

X-linked recessive inheritance The pedigree below illustrates the occurrence of an X-linked disorder called hemophilia. Hemophilia is characterized by excessive bleeding and bruising. Depending on the type of hemophilia, a particular blood-clotting factor is deficient. In X-linked recessive inheritance, males are affected with the condition while females are unaffected carriers. In X-linked recessive inheritance, vertical transmission of the disease is seen, with skipping of generations. There is no male-to-male transmission of a disease in this type of inheritance. This is because males pass their Y chromosome to each son, instead of the X chromosome with the disease gene. Each daughter of an affected male is an obligate carrier of the disease since they will always inherit his X chromosome. There is a 50% that each son of a carrier woman will be affected. There is a 50% chance that each daughter of a carrier female will be a carrier. Confidentiality Pedigrees contain very personal and identifying information about families. It is therefore essential that pedigrees be kept confidential. This is important not only in the genetic counseling clinic or research group, but also within the family. It is unethical to share information given about family members with other family members, insurance companies, or other professionals not involved in the genetic counseling sessions or research study. Information about individuals should only be released with proper written consent by that individual.

Other Items To Remember To Include: Date history was taken Name of person taking the pedigree Name(s) of person(s) providing the information (HISTORIAN) Whether individuals are alive or deceased Age and cause of death The age of onset of the diseases Ethnicity Parental consanguinity (couples related by blood)

PEDIGREE SYMBOLS AND LINES

Couples are connected with a horizontal relationship line between symbols Children are located below their parents and are connected to them with a vertical line of descent Full biological brothers and sisters are connected to each other by a horizontal sibship line drawn above them and connects their individual lines

Once phenotypic data is collected from several generations and the pedigree is drawn, careful analysis will allow you to determine whether the trait is dominant or recessive.