Shapiro S D, Jorgenson R J
Birth Defects Orig Artic Ser. 1983;19(1):155-66.
The diagnosis of genetic disorders is complicated by multiple genetic causes for the same or similar disorders, phenotypic similarities of different disorders, and environmental disorders that resemble genetic ones. The clinical geneticist is well versed in identifying genetic heterogeneity, and the extent of the clinical heterogeneity and phenocopies for diseases with which he or she deals regularly. Nonetheless, the expertise of clinical geneticists form other specialties of medicine or dentistry may be useful in documenting heterogeneity that otherwise may be overlooked. The examples presented here illustrate that heterogeneity is as important to the dentist who practices clinical genetics as it is to the physician-clinical geneticist, and that a consultation with a properly trained dentist may be a useful part of a protocol for the genetic evaluation.
同一或相似疾病存在多种遗传病因、不同疾病的表型相似性以及与遗传疾病相似的环境性疾病。临床遗传学家精通识别遗传异质性，以及他们经常处理的疾病的临床异质性和拟表型的程度。尽管如此，来自医学或牙科其他专业的临床遗传学家的专业知识，可能有助于记录那些否则可能被忽视的异质性。这里给出的例子表明，异质性对于从事临床遗传学的牙医和临床遗传学家一样重要，并且与受过适当培训的牙医进行会诊，可能是遗传评估方案中有用的一部分。
