TABLE 4.
Multiple relatives affected with the same disorder or related disorders |
Earlier-than-expected age at onset of disease |
Intellectual disability (formerly referred to as developmental delay or mental retardation) |
Diagnosis of a disease in the less-often-affected sex (e.g., breast cancer in a male) |
Multifocal or bilateral occurrence in paired organs |
At least one major malformation, with or without minor manifestations |
Disease in the absence of risk factors or after preventive measures |
Abnormalities in growth (growth retardation, asymmetric or excessive growth) |
Recurrent pregnancy losses |
Consanguinity (blood relationship between parents) |
*Adapted from Core Principles in Family History: Interpretation. National Coalition for Health Professional Education in Genetics. http://www.nchpeg.org/index.php?option=com_content&view=article&id=199&Itemid=126. Accessed February 22, 2013.