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Pitfalls in Genetic Counseling for Childhood Disorders: The Pediatrician's Role

Am J Dis Child. 1993;147(11):1253-1254. doi:10.1001/archpedi.1993.02160350127020.
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Sir.—When a genetic disorder is diagnosed during childhood, the focus is on the delineation of clinical features, treatment, and prognosis for the proband. In addition, genetic counseling for the parents also deals with the risk for recurrence and the significance of the diagnosis for other children and family members when they reach their childbearing years. Although pertinent information is usually fully discussed and summarized in a follow-up letter, discussions with the intellectually normal probands are deferred until an appropriate age. As the probands and their siblings reach late adolescence and early adulthood, they have been found to be not adequately informed, and do not appreciate the full impact of the disorder or its reproductive significance. The parents tend to avoid conveying this information and arranging for followup genetic counseling despite receiving a genetic counseling summary letter with instructions to preserve it for future use. The three cases presented herein


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