Abstract
Clinical genetic evaluations are defined by the knowledge and technology
available at the time they occur. In the modern era, microarray and
exome sequence are first line tests for clinical geneticists; however,
beginning in the late 1970s and continuing until the turn of the past
century, a standard genetic evaluation consisted, in many cases, of an
examination by a dysmorphologist as well as a conventional karyotype. In
general, once a genetic diagnosis is established, it does not get
revisited as more advanced methods become available. Clearly, there will
be instances in which new technology can modify or change a prior
diagnosis. We present a family in which the recent birth of a baby
resulted in the establishment of a cytogenetic diagnosis of a different
family member whose initial evaluation and clinical diagnosis had
occurred three decades earlier. The new genomic findings have profound
implications for other family members, and in addition provided the
family with a sense of closure.